ATP-Binding Cassette, Subfamily A, Member 4

Alternative Names

ABCA4
ATP-Binding Cassette Transporter, Retina-Specific
ABCR
ABC Transporter, Retina-Specific
Photoreceptor RIM Protein
RMP

Associated Diseases

Cone-Rod Dystrophy 3; Retinitis Pigmentosa 19; Stargardt Disease 1

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OMIM Number

601691

NCBI Gene ID

Uniprot ID

P78363

Length

128,316 bases

No. of Exons

No. of isoforms

Protein Name

Retinal-Specific Phospholipid-Transporting ATPase ABCA4

Molecular Mass

255944 Da

Amino Acid Count

2273

Genomic Location

chr1:93,992,833-94,121,147

Gene Map Locus

1p22.1

Description

The ABCA4 gene codes for the retina-specific ATP-binding cassette transporter. This protein is expressed in the outer segment of the rod and cone photoreceptor cells in the retina and is involved in clearance from photoreceptor cells of all-trans-retinal aldehyde (atRAL), a byproduct of the retinoid cycle of vision.

Protein misfolding, decreased functioning, and mislocalization due to ABCA4 mutations were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to the new diagnostic term, ABCA4-related retinopathy.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000350.3:c.1648G>A	Lebanon	chr1:94063224	Likely Pathogenic,Pathogenic	Stargardt Disease 1	NG_009073.1:g.62926G>A; NM_000350.3:c.1648G>A; NP_000341.2:p.Gly550Arg	61748558	99070
NM_000350.3:c.1804C>T	Jordan	chr1:94062710	Pathogenic	Stargardt Disease 1	NG_009073.1:g.63440C>T; NM_000350.3:c.1804C>T; NP_000341.2:p.Arg602Trp	61749409	99084
NM_000350.3:c.1807T>C	Lebanon	chr1:94062707	Likely Pathogenic,Pathogenic,Uncertain Significance	Stargardt Disease 1	NG_009073.1:g.63443T>C; NM_000350.3:c.1807T>C; NP_000341.2:p.Tyr603His	1064793006	417981
NM_000350.3:c.2294G>A	Jordan	chr1:94056689	Likely Pathogenic	Stargardt Disease 1	NG_009073.1:g.69461G>A; NM_000350.3:c.2294G>A; NP_000341.2:p.Ser765Asn	61749429	99125
NM_000350.3:c.2570T>C	United Arab Emirates	NC_000001.11:g.94055128A>G	Uncertain Significance	Stargardt Disease 1	NG_009073.1:g.71022T>C; NM_000350.3:c.2570T>C; NP_000341.2:p.Leu857Pro	768435443	867186
NM_000350.3:c.2657del	United Arab Emirates	NC_000001.11:g.94048954del		Stargardt Disease 1	NG_009073.1:g.77196del; NM_000350.3:c.2657del; NP_000341.2:p.Cys886PhefsTer15
NM_000350.3:c.2791G>A	Saudi Arabia	chr1:94047046	Likely Pathogenic	Stargardt Disease 1	NG_009073.1:g.79104G>A; NM_000350.3:c.2791G>A; NP_000341.2:p.Val931Met	58331765	7880
NM_000350.3:c.3259G>A	United Arab Emirates	NC_000001.11:g.94042830C>T	Pathogenic	Stargardt Disease 1	NG_009073.1:g.83320G>A; NM_000350.3:c.3259G>A; NP_000341.2:p.Glu1087Lys	61751398	99211
NM_000350.3:c.3482G>A	Syria	chr1:94041249	Likely Pathogenic	Retinitis Pigmentosa 19	NG_009073.1:g.84901G>A; NM_000350.3:c.3482G>A; NP_000341.2:p.Arg1161His	768278935	236102
NM_000350.3:c.3610G>A	Syria	chr1:94037348	Pathogenic	Cone-Rod Dystrophy 3	NG_009073.1:g.88802G>A; NM_000350.3:c.3610G>A; NP_000341.2:p.Asp1204Asn	61750127	99234
NM_000350.3:c.3623T>G	United Arab Emirates	NC_000001.11:g.94037335A>C		Stargardt Disease 1	NG_009073.1:g.88815T>G; NM_000350.3:c.3623T>G; NP_000341.2:p.Leu1208Arg
NM_000350.3:c.3898C>T	United Arab Emirates	NC_000001.11:g.94032008G>A	Pathogenic	Stargardt Disease 1	NG_009073.1:g.94142C>T; NM_000350.3:c.3898C>T; NP_000341.2:p.Arg1300Ter	61752427	99245
NM_000350.3:c.4328G>A	United Arab Emirates	NC_000001.11:g.94030452C>T	Likely Pathogenic,Pathogenic	Stargardt Disease 1	NG_009073.1:g.95698G>A; NM_000350.3:c.4328G>A; NP_000341.2:p.Arg1443His	61750142	99278
NM_000350.3:c.4567C>T	United Arab Emirates	NC_000001.11:g.94025021G>A	Pathogenic	Stargardt Disease 1	NG_009073.1:g.101129C>T; NM_000350.3:c.4567C>T; NP_000341.2:p.Gln1523Ter	1553188916	522465
NM_000350.3:c.4793C>A	United Arab Emirates	NC_000001.11:g.94021695G>T	Likely Pathogenic,Pathogenic	Stargardt Disease 1	NG_009073.1:g.104455C>A; NM_000350.3:c.4793C>A; NP_000341.2:p.Ala1598Asp	61750155	99321
NM_000350.3:c.5882G>A	Somalia; United Arab E...	NC_000001.11:g.94008251C>T	Likely Pathogenic,Pathogenic,Risk factor,Uncertain Significance	Stargardt Disease 1	NG_009073.1:g.117899G>A; NM_000350.3:c.5882G>A; NP_000341.2:p.Gly1961Glu	1800553	7888
NM_000350.3:c.607_611del	United Arab Emirates	NC_000001.11:g.94098951_94098955del		Stargardt Disease 1	NG_009073.1:g.27195_27199del; NM_000350.3:c.607_611del; NP_000341.2:p.Ile203LeufsTer75
NM_000350.3:c.749del	United Arab Emirates	NC_000001.11:g.94098814del		Stargardt Disease 1	NG_009073.1:g.27337del; NM_000350.3:c.749del; NP_000341.2:p.Phe250SerfsTer12

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4

Contributors

Pratibha Nair: 23.06.2022
Asha Deepthi: 05.04.2021
Pratibha Nair: 15.11.2020
Ghazi O. Tadmouri: 26.02.2012

Edit History

Pratibha Nair: 23.06.2022
Asha Deepthi: 05.04.2021
Pratibha Nair: 15.11.2020
Sayeeda Hana: 18.07.2020
Sayeeda Hana: 06.07.2020
Sayeeda Hana: 02.07.2020
Pratibha Nair: 01.03.2012
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004