<?xml version="1.0"?>
<feed xmlns="http://www.w3.org/2005/Atom" xml:lang="zh">
	<id>https://arolstar52-zhtest.hf.space/index.php?action=history&amp;feed=atom&amp;title=ABCA4</id>
	<title>ABCA4 - 版本历史</title>
	<link rel="self" type="application/atom+xml" href="https://arolstar52-zhtest.hf.space/index.php?action=history&amp;feed=atom&amp;title=ABCA4"/>
	<link rel="alternate" type="text/html" href="https://arolstar52-zhtest.hf.space/index.php?title=ABCA4&amp;action=history"/>
	<updated>2026-07-11T19:18:00Z</updated>
	<subtitle>在这个wiki上该页的修订历史</subtitle>
	<generator>MediaWiki 1.43.9</generator>
	<entry>
		<id>https://arolstar52-zhtest.hf.space/index.php?title=ABCA4&amp;diff=4162970&amp;oldid=prev</id>
		<title>imported&gt;InternetArchiveBot：​Add 4 books for verifiability (20251017sim)) #IABot (v2.0.9.5) (GreenC bot</title>
		<link rel="alternate" type="text/html" href="https://arolstar52-zhtest.hf.space/index.php?title=ABCA4&amp;diff=4162970&amp;oldid=prev"/>
		<updated>2025-10-17T20:35:41Z</updated>

		<summary type="html">&lt;p&gt;Add 4 books for verifiability (20251017sim)) #IABot (v2.0.9.5) (&lt;a href=&quot;/index.php?title=User:GreenC_bot&amp;amp;action=edit&amp;amp;redlink=1&quot; class=&quot;new&quot; title=&quot;User:GreenC bot（页面不存在）&quot;&gt;GreenC bot&lt;/a&gt;&lt;/p&gt;
&lt;p&gt;&lt;b&gt;新页面&lt;/b&gt;&lt;/p&gt;&lt;div&gt;{{Infobox gene}}&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;三磷酸腺苷结合盒亚家族A成员4&amp;#039;&amp;#039;&amp;#039;（英语：ATP-binding cassette, sub-family A, member 4），也称为&amp;#039;&amp;#039;&amp;#039;ABCA4&amp;#039;&amp;#039;&amp;#039;或&amp;#039;&amp;#039;&amp;#039;ABCR&amp;#039;&amp;#039;&amp;#039;，是一种在人类中由&amp;#039;&amp;#039;ABCA4&amp;#039;&amp;#039;[[基因]]编码的[[蛋白质]]。&amp;lt;ref name=&amp;quot;entrez&amp;quot;&amp;gt;{{cite web|title=Entrez Gene: ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4|url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&amp;amp;Cmd=ShowDetailView&amp;amp;TermToSearch=24}}&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;pmid9054934&amp;quot;&amp;gt;{{cite journal |vauthors=Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR |date=March 1997 |title=A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy |journal=Nature Genetics |volume=15 |issue=3 |pages=236–46 |doi=10.1038/ng0397-236 |pmid=9054934 |s2cid=31677978}}&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;pmid9490294&amp;quot;&amp;gt;{{cite journal |vauthors=Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH |date=January 1998 |title=Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt&amp;#039;s disease |journal=Human Genetics |volume=102 |issue=1 |pages=21–6 |doi=10.1007/s004390050649 |pmid=9490294 |s2cid=22070963}}&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
ABCA4是[[ATP结合盒转运蛋白]]（ABC）基因亚家族A的成员，仅存在于[[多細胞生物|多细胞]][[真核生物]]中。&amp;lt;ref name=&amp;quot;entrez&amp;quot; /&amp;gt;该基因于1997年首次被克隆并鉴定为导致[[斯特格氏病]]的基因，斯特格氏病是一种导致[[黄斑变性]]的常染色体隐性遗传病。&amp;lt;ref name=&amp;quot;pmid9295268&amp;quot;&amp;gt;{{cite journal |vauthors=Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M |date=September 1997 |title=Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration |url=https://zenodo.org/record/1231124 |journal=Science |volume=277 |issue=5333 |pages=1805–7 |doi=10.1126/science.277.5333.1805 |pmid=9295268 |access-date=2023-01-31 |archive-date=2023-01-31 |archive-url=https://web.archive.org/web/20230131124335/https://zenodo.org/record/1231124 |dead-url=no }}&amp;lt;/ref&amp;gt;&amp;#039;&amp;#039;ABCA4&amp;#039;&amp;#039;基因转录具有两个跨膜结构域（TMD）、两个[[糖基化]]细胞外结构域（ECD）和两个[[核苷酸]]结合结构域（NBD）的大型视网膜特异性蛋白。ABCA4蛋白几乎只在[[视网膜]]中表达，定位于[[视杆细胞]]的外段圆盘边缘。&amp;lt;ref name=&amp;quot;pmid10736747&amp;quot;&amp;gt;{{cite journal |vauthors=Sun H, Nathans J |year=2000 |title=ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease |url=https://archive.org/details/vertebratephotot0315unse/page/879 |journal=Methods in Enzymology |volume=315 |pages=[https://archive.org/details/vertebratephotot0315unse/page/879 879–97] |doi=10.1016/S0076-6879(00)15888-4 |isbn=978-0-12-182216-3 |pmid=10736747}}&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== 结构 ==&lt;br /&gt;
以前称为光感受器边缘蛋白RmP或ABCA4，最近提出的ABCA4结构由两个跨膜结构域（TMD）、两个大的糖基化胞外结构域（ECD）和两个内部核苷酸结合结构域（NBD）组成。一个TMD跨越膜，六个蛋白质单元连接在一起形成一个结构域。因TMD作为通道或配体结合控制器的特异性和多样性，所以其通常在基因组中不保守。然而，NBD在不同基因组中高度保守，这一观察结果与其结合和水解三磷酸腺苷一致。NBD与[[三磷酸腺苷]]分子结合，利用高能无机[[磷酸盐]]来改变[[ABC转运蛋白]]的构象。转录的ABCA4形成异[[二聚体]]：通道的两个二聚体隔室彼此不同。当TMD位于膜中时，它们形成桶状结构，可渗透视黄醇配体并控制通道进入其结合位点。&amp;lt;ref name=&amp;quot;vanmeer2005&amp;quot;&amp;gt;{{cite journal |vauthors=van Meer G, Halter D, Sprong H, Somerharju P, Egmond MR |date=February 2006 |title=ABC lipid transporters: extruders, flippases, or flopless activators? |journal=FEBS Letters |volume=580 |issue=4 |pages=1171–7 |doi=10.1016/j.febslet.2005.12.019 |hdl=1874/19996 |pmid=16376334 |s2cid=27946190 |hdl-access=free}}&amp;lt;/ref&amp;gt;一旦三磷酸腺苷在通道的NBD处水解，NBD就会聚集在一起以倾斜和修饰TMD以调节配体与通道的结合。&amp;lt;ref name=&amp;quot;sullivan2008&amp;quot;&amp;gt;{{cite journal |vauthors=Sullivan JM |date=November 2009 |title=Focus on molecules: ABCA4 (ABCR)--an import-directed photoreceptor retinoid flipase |journal=Experimental Eye Research |volume=89 |issue=5 |pages=602–3 |doi=10.1016/j.exer.2009.03.005 |pmc=3371273 |pmid=19306869}}&amp;lt;/ref&amp;gt;最近提出的[[类视黄醇]]转移模型是由于外部和内部TMD配体结合位点的交替暴露而发生的，所有这些都由三磷酸腺苷的结合控制，是基于最近对细菌ABC转运蛋白的结构分析。&lt;br /&gt;
&lt;br /&gt;
== 功能 ==&lt;br /&gt;
&amp;#039;&amp;#039;ABCA4&amp;#039;&amp;#039;局限于[[视杆细胞|杆]]和[[视锥细胞|锥]]的外段盘边缘。ABCA4的表达比[[视紫红质]]少得多，大约为1:120。哺乳动物&amp;#039;&amp;#039;ABCA4&amp;#039;&amp;#039;与其他ABC的比较、ABCA4的细胞定位以及ABCA4[[基因敲除小鼠]]的分析表明ABCA4可能作为一种内向的类视黄醇[[翻转酶]]发挥作用。&amp;lt;ref name=&amp;quot;weng19992&amp;quot;&amp;gt;{{cite journal |vauthors=Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH |date=July 1999 |title=Insights into the function of Rim protein in photoreceptors and etiology of Stargardt&amp;#039;s disease from the phenotype in abcr knockout mice |journal=Cell |volume=98 |issue=1 |pages=13–23 |doi=10.1016/S0092-8674(00)80602-9 |pmid=10412977 |s2cid=18605680 |doi-access=free}}&amp;lt;/ref&amp;gt;翻转酶是一种跨膜蛋白，可“翻转”其构象以跨膜运输物质。在ABCA4的情况下，翻转酶促进N-视黄基-[[磷脂酰乙醇胺]]（NR-PE）的转移，NR-PE是全反式[[视黄醛]]（ATR）与磷脂酰乙醇胺（PE）的共价加合物，作为带电物质被困在圆盘内，进入细胞质表面。&amp;lt;ref name=&amp;quot;molday2&amp;quot;&amp;gt;{{cite journal |vauthors=Molday RS, Beharry S, Ahn J, Zhong M |year=2006 |title=Binding of N-retinylidene-PE to ABCA4 and a model for its transport across membranes |url=https://archive.org/details/isbn_9780387284644/page/465 |journal=Advances in Experimental Medicine and Biology |volume=572 |pages=[https://archive.org/details/isbn_9780387284644/page/465 465–70] |doi=10.1007/0-387-32442-9_64 |isbn=978-0-387-28464-4 |pmid=17249610 |url-access=registration}}&amp;lt;/ref&amp;gt;一旦运输，ATR被还原为[[维生素A]]，然后转移到视网膜色素上皮，再循环成11-顺式视黄醛。这种ABCA4的交替访问-释放模型有四个步骤：(1)三磷酸腺苷与NBD的结合，将两个NBD结合在一起，并暴露位于TMD的外前庭高亲和力结合位点，(2)NR-PE/ATR在细胞外的结合通道一侧，(3)三磷酸腺苷水解促进门打开和NR-PE/ATR跨膜移动到TMD细胞内部分的低亲和力结合位点，以及(4)[[二磷酸腺苷]]和无机磷酸盐（P&amp;lt;sub&amp;gt;i&amp;lt;/sub&amp;gt;）释放结合的配体。然后通道准备好再次传输另一个NR-PE/ATR分子。&lt;br /&gt;
[[File:A2E.svg|right|thumb|380x380px|&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-亚视黄基-&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-视黄基乙醇胺（A2E）]]&lt;br /&gt;
ABCA4-/-基因敲除小鼠已延迟暗适应，但相对于对照组而言，最终杆状细胞阈值正常。&amp;lt;ref name=&amp;quot;weng19992&amp;quot; /&amp;gt;这表明从细胞外膜去除ATR/NR-PE的大量跨膜扩散途径。用强光漂白视网膜后，ATR/NR-PE在外节显着积累。这种积累导致形成有毒的阳离子双吡啶盐、&amp;#039;&amp;#039;&amp;#039;&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-亚视黄基-&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-视黄基乙醇胺&amp;#039;&amp;#039;&amp;#039;（A2E），从而导致人类干性和湿性年龄相关性黄斑变性。&amp;lt;ref name=&amp;quot;maeda20082&amp;quot;&amp;gt;{{cite journal |vauthors=Maeda A, Maeda T, Golczak M, Palczewski K |date=September 2008 |title=Retinopathy in mice induced by disrupted all-trans-retinal clearance |url=https://archive.org/details/sim_journal-of-biological-chemistry_2008-09-26_283_39/page/26684 |journal=The Journal of Biological Chemistry |volume=283 |issue=39 |pages=26684–93 |doi=10.1074/jbc.M804505200 |pmc=2546559 |pmid=18658157 |doi-access=free}}&amp;lt;/ref&amp;gt;从这个实验中，可以得出结论ABCA4在清除ATR/NR-PE的积累方面具有重要作用，以防止在漂白剂恢复过程中在细胞外感光器表面形成A2E。&lt;br /&gt;
&lt;br /&gt;
== 临床意义 ==&lt;br /&gt;
已知ABCA4基因的突变会导致常染色体隐性遗传病斯特格氏黄斑营养不良（STGD），这是一种遗传性青少年[[黄斑变性]]病，会导致[[感光细胞]]逐渐丧失。STGD的特征是视力和色觉降低、中央（黄斑）视力丧失、暗适应延迟以及自体荧光RPE[[脂褐素]]积累。&amp;lt;ref name=&amp;quot;maeda2008&amp;quot; /&amp;gt;去除NR-PE/ATR似乎对正常的漂白剂恢复和减轻导致[[光感受器]]退化的持久性视蛋白信号具有重要意义。ABCA4还减轻了ATR积累的长期影响，导致不可逆的ATR与第二个ATR分子和NR-PE结合形成二氢-&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-亚视黄基-&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-视黄基-磷脂酰-乙醇胺（A2PE-H2）。A2PE-H2捕获ATR并在外部片段中积累，以进一步氧化成&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-亚视黄基-&amp;#039;&amp;#039;N&amp;#039;&amp;#039;-视黄基-磷脂酰-乙醇胺（A2PE）。在RPE细胞昼夜盘脱落和吞噬外节后，A2PE在RPE吞噬溶酶体内水解形成A2E。&amp;lt;ref name=&amp;quot;maeda2008&amp;quot; /&amp;gt;A2E的积累会导致原发性RPE水平的毒性和黄斑变性中的继发性光感受器破坏。&lt;br /&gt;
&lt;br /&gt;
可能与&amp;#039;&amp;#039;ABCA4&amp;#039;&amp;#039;突变相关的其他疾病包括[[视锥细胞营养不良]]、[[视网膜色素变性]]和[[黄斑变性|年龄相关性黄斑变性]]。&lt;br /&gt;
&lt;br /&gt;
GENEVA Cleft Consortium研究首先确定ABCA4与[[唇裂]]和/或腭裂有关，并通过多个标记提供了全基因组显着性水平的连锁和关联证据。&amp;lt;ref name=&amp;quot;pmid21331089&amp;quot;&amp;gt;{{cite journal |vauthors=Dixon MJ, Marazita ML, Beaty TH, Murray JC |date=March 2011 |title=Cleft lip and palate: understanding genetic and environmental influences |journal=Nature Reviews Genetics |volume=12 |issue=3 |pages=167–78 |doi=10.1038/nrg2933 |pmc=3086810 |pmid=21331089}}&amp;lt;/ref&amp;gt;尽管该基因中的S​NP与唇裂/腭裂有关，但没有功能或表达数据支持它作为致病基因，相反，它可能位于与ABCA4相邻的区域。&amp;lt;ref name=&amp;quot;pmid21618603&amp;quot;&amp;gt;{{cite journal |vauthors=Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Murray T, Redett RJ, Fallin MD, Liang KY, Wu T, Patel PJ, Jin SC, Zhang TX, Schwender H, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Lie RT, Jee SH, Christensen K, Doheny KF, Pugh EW, Ling H, Scott AF |date=September 2011 |title=Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate |journal=Genetic Epidemiology |volume=35 |issue=6 |pages=469–78 |doi=10.1002/gepi.20595 |pmc=3180858 |pmid=21618603}}&amp;lt;/ref&amp;gt;[[全基因组关联分析|全基因组关联]]、罕见编码序列变异、颅面特异性表达以及与 IRF6 的相互作用的组合支持相邻的[[ARHGAP29]]基因可能是在非综合征性唇裂和/或腭裂中发挥作用的致病基因。&amp;lt;ref name=&amp;quot;Leslie_2012&amp;quot;&amp;gt;{{cite journal |vauthors=Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC |date=November 2012 |title=Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22 |journal=Birth Defects Research. Part A, Clinical and Molecular Teratology |volume=94 |issue=11 |pages=934–42 |doi=10.1002/bdra.23076 |pmc=3501616 |pmid=23008150}}&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== 参见 ==&lt;br /&gt;
&lt;br /&gt;
* [[ATP结合盒转运蛋白]]&lt;br /&gt;
&lt;br /&gt;
== 参考资料 ==&lt;br /&gt;
{{reflist|33em}}&lt;br /&gt;
&lt;br /&gt;
== 延申阅读 ==&lt;br /&gt;
{{Refbegin|33em}}&lt;br /&gt;
* {{cite journal |vauthors=MacDonald IM |date=June 2005 |title=Genetic aspects of age-related macular degeneration |url=https://archive.org/details/sim_canadian-journal-of-ophthalmology_2005-06_40_3/page/288 |journal=Canadian Journal of Ophthalmology |volume=40 |issue=3 |pages=288–92 |doi=10.1016/S0008-4182(05)80071-7 |pmid=15947798}}&lt;br /&gt;
* {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |date=September 1996 |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Research |volume=6 |issue=9 |pages=791–806 |doi=10.1101/gr.6.9.791 |pmid=8889548 |doi-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR |date=March 1997 |title=A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy |journal=Nature Genetics |volume=15 |issue=3 |pages=236–46 |doi=10.1038/ng0397-236 |pmid=9054934 |s2cid=31677978}}&lt;br /&gt;
* {{cite journal |vauthors=Martínez-Mir A, Bayés M, Vilageliu L, Grinberg D, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S |date=February 1997 |title=A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21 |journal=Genomics |volume=40 |issue=1 |pages=142–6 |doi=10.1006/geno.1996.4528 |hdl=10261/39369 |pmid=9070931 |hdl-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Azarian SM, Travis GH |date=June 1997 |title=The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt&amp;#039;s disease (ABCR) |url=https://archive.org/details/sim_febs-letters_1997-06-09_409_2/page/246 |journal=FEBS Letters |volume=409 |issue=2 |pages=247–52 |doi=10.1016/S0014-5793(97)00517-6 |pmid=9202155 |doi-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Sun H, Nathans J |date=September 1997 |title=Stargardt&amp;#039;s ABCR is localized to the disc membrane of retinal rod outer segments |journal=Nature Genetics |volume=17 |issue=1 |pages=15–6 |doi=10.1038/ng0997-15 |pmid=9288089 |s2cid=759924}}&lt;br /&gt;
* {{cite journal |vauthors=Allikmets R |date=September 1997 |title=A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy |journal=Nature Genetics |volume=17 |issue=1 |pages=122 |doi=10.1038/ng0997-122a |pmid=9288113 |doi-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M |date=September 1997 |title=Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration |url=https://zenodo.org/record/1231124 |journal=Science |volume=277 |issue=5333 |pages=1805–7 |doi=10.1126/science.277.5333.1805 |pmid=9295268 |access-date=2023-01-31 |archive-date=2023-01-31 |archive-url=https://web.archive.org/web/20230131124335/https://zenodo.org/record/1231124 |dead-url=no }}&lt;br /&gt;
* {{cite journal |vauthors=Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzàlez-Duarte R, Balcells S |date=January 1998 |title=Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR |journal=Nature Genetics |volume=18 |issue=1 |pages=11–2 |doi=10.1038/ng0198-11 |hdl=10261/39477 |pmid=9425888 |s2cid=125620 |hdl-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB |date=March 1998 |title=Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt&amp;#039;s disease gene ABCR |journal=Human Molecular Genetics |volume=7 |issue=3 |pages=355–62 |doi=10.1093/hmg/7.3.355 |pmid=9466990 |doi-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH |date=January 1998 |title=Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt&amp;#039;s disease |journal=Human Genetics |volume=102 |issue=1 |pages=21–6 |doi=10.1007/s004390050649 |pmid=9490294 |s2cid=22070963}}&lt;br /&gt;
* {{cite journal |vauthors=Gerber S, Rozet JM, van de Pol TJ, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FP |date=February 1998 |title=Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease |journal=Genomics |volume=48 |issue=1 |pages=139–42 |doi=10.1006/geno.1997.5164 |pmid=9503029}}&lt;br /&gt;
* {{cite journal |vauthors=Azarian SM, Megarity CF, Weng J, Horvath DH, Travis GH |date=June 1998 |title=The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis |journal=Human Genetics |volume=102 |issue=6 |pages=699–705 |doi=10.1007/s004390050765 |pmid=9703434 |s2cid=34452470}}&lt;br /&gt;
* {{cite journal |vauthors=Rozet JM, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J |year=1998 |title=Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies |journal=European Journal of Human Genetics |volume=6 |issue=3 |pages=291–5 |doi=10.1038/sj.ejhg.5200221 |pmid=9781034 |doi-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M |date=February 1999 |title=Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease |url=https://archive.org/details/sim_american-journal-of-human-genetics_1999-02_64_2/page/422 |journal=American Journal of Human Genetics |volume=64 |issue=2 |pages=422–34 |doi=10.1086/302251 |pmc=1377752 |pmid=9973280}}&lt;br /&gt;
* {{cite journal |vauthors=Sun H, Molday RS, Nathans J |date=March 1999 |title=Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease |url=https://archive.org/details/sim_journal-of-biological-chemistry_1999-03-19_274_12/page/8268 |journal=The Journal of Biological Chemistry |volume=274 |issue=12 |pages=8269–81 |doi=10.1074/jbc.274.12.8269 |pmid=10075733 |doi-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP |date=April 1999 |title=The 2588G--&amp;gt;C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease |url=https://archive.org/details/sim_american-journal-of-human-genetics_1999-04_64_4/page/1024 |journal=American Journal of Human Genetics |volume=64 |issue=4 |pages=1024–35 |doi=10.1086/302323 |pmc=1377826 |pmid=10090887}}&lt;br /&gt;
* {{cite journal |vauthors=Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR |date=April 1999 |title=Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene |journal=Archives of Ophthalmology |volume=117 |issue=4 |pages=504–10 |doi=10.1001/archopht.117.4.504 |pmid=10206579 |doi-access=free}}&lt;br /&gt;
* {{cite journal |vauthors=Körschen HG, Beyermann M, Müller F, Heck M, Vantler M, Koch KW, Kellner R, Wolfrum U, Bode C, Hofmann KP, Kaupp UB |date=August 1999 |title=Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors |url=https://archive.org/details/sim_nature-uk_1999-08-19_400_6746/page/760 |journal=Nature |volume=400 |issue=6746 |pages=761–6 |bibcode=1999Natur.400..761K |doi=10.1038/23468 |pmid=10466724 |s2cid=4394997}}&lt;br /&gt;
* {{cite journal |vauthors=Zhang K, Garibaldi DC, Kniazeva M, Albini T, Chiang MF, Kerrigan M, Sunness JS, Han M, Allikmets R |date=December 1999 |title=A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease |url=https://archive.org/details/sim_american-journal-of-ophthalmology_1999-12_128_6/page/720 |journal=American Journal of Ophthalmology |volume=128 |issue=6 |pages=720–4 |doi=10.1016/S0002-9394(99)00236-6 |pmid=10612508 |doi-access=free}}&lt;br /&gt;
{{Refend}}&lt;br /&gt;
&lt;br /&gt;
== 外部链接 ==&lt;br /&gt;
&lt;br /&gt;
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&amp;amp;part=rp-overview GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview] {{Wayback|url=https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&amp;amp;part=rp-overview |date=20100531205621 }}&lt;br /&gt;
* {{MeshName|ABCA4+protein,+human}}&lt;br /&gt;
* {{UCSC genome browser|ABCA4}}&lt;br /&gt;
* {{UCSC gene details|ABCA4}}&lt;br /&gt;
&lt;br /&gt;
{{ABC转运蛋白}}&lt;br /&gt;
&lt;br /&gt;
[[Category:ATP结合盒转运蛋白]]&lt;/div&gt;</summary>
		<author><name>imported&gt;InternetArchiveBot</name></author>
	</entry>
</feed>