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
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OMIM Number

601691

NCBI Gene ID

24

Uniprot ID

P78363

Length

128,316 bases

No. of Exons

50

No. of isoforms

1

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000350.3:c.1648G>ALebanonchr1:94063224Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicStargardt Disease 1NG_009073.1:g.62926G>A; NM_000350.3:c.1648G>A; NP_000341.2:p.Gly550Arg6174855899070
NM_000350.3:c.1714C>TUnited Arab EmiratesNC_000001.11:g.94063158G>APathogenicPathogenicStargardt Disease 1NG_009073.1:g.62992C>T; NM_000350.3:c.1714C>T; NP_000341.2:p.Arg572Ter1557787756620085
NM_000350.3:c.1804C>TJordanchr1:94062710PathogenicPathogenicStargardt Disease 1NG_009073.1:g.63440C>T; NM_000350.3:c.1804C>T; NP_000341.2:p.Arg602Trp6174940999084
NM_000350.3:c.1807T>CLebanonchr1:94062707Likely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicStargardt Disease 1NG_009073.1:g.63443T>C; NM_000350.3:c.1807T>C; NP_000341.2:p.Tyr603His1064793006417981
NM_000350.3:c.2294G>AJordanchr1:94056689Likely PathogenicPathogenicStargardt Disease 1NG_009073.1:g.69461G>A; NM_000350.3:c.2294G>A; NP_000341.2:p.Ser765Asn6174942999125
NM_000350.3:c.2570T>CUnited Arab EmiratesNC_000001.11:g.94055128A>GPathogenic, Uncertain SignificanceLikely PathogenicStargardt Disease 1NG_009073.1:g.71022T>C; NM_000350.3:c.2570T>C; NP_000341.2:p.Leu857Pro768435443867186
NM_000350.3:c.2657delUnited Arab EmiratesNC_000001.11:g.94048954delLikely PathogenicStargardt Disease 1NG_009073.1:g.77196del; NM_000350.3:c.2657del; NP_000341.2:p.Cys886PhefsTer15
NM_000350.3:c.2791G>ASaudi Arabiachr1:94047046Likely PathogenicLikely PathogenicStargardt Disease 1NG_009073.1:g.79104G>A; NM_000350.3:c.2791G>A; NP_000341.2:p.Val931Met583317657880
NM_000350.3:c.3259G>AUnited Arab EmiratesNC_000001.11:g.94042830C>TPathogenicLikely PathogenicStargardt Disease 1NG_009073.1:g.83320G>A; NM_000350.3:c.3259G>A; NP_000341.2:p.Glu1087Lys6175139899211
NM_000350.3:c.3482G>ASyriachr1:94041249Likely PathogenicPathogenicRetinitis Pigmentosa 19NG_009073.1:g.84901G>A; NM_000350.3:c.3482G>A; NP_000341.2:p.Arg1161His768278935236102
NM_000350.3:c.3610G>ASyriachr1:94037348PathogenicPathogenicCone-Rod Dystrophy 3NG_009073.1:g.88802G>A; NM_000350.3:c.3610G>A; NP_000341.2:p.Asp1204Asn6175012799234
NM_000350.3:c.3623T>GUnited Arab EmiratesNC_000001.11:g.94037335A>CLikely PathogenicStargardt Disease 1NG_009073.1:g.88815T>G; NM_000350.3:c.3623T>G; NP_000341.2:p.Leu1208Arg
NM_000350.3:c.3898C>TUnited Arab EmiratesNC_000001.11:g.94032008G>APathogenicLikely Pathogenic, PathogenicStargardt Disease 1NG_009073.1:g.94142C>T; NM_000350.3:c.3898C>T; NP_000341.2:p.Arg1300Ter6175242799245
NM_000350.3:c.4328G>AUnited Arab EmiratesNC_000001.11:g.94030452C>TLikely Pathogenic, PathogenicPathogenicStargardt Disease 1NG_009073.1:g.95698G>A; NM_000350.3:c.4328G>A; NP_000341.2:p.Arg1443His6175014299278
NM_000350.3:c.4567C>TUnited Arab EmiratesNC_000001.11:g.94025021G>APathogenicLikely PathogenicStargardt Disease 1NG_009073.1:g.101129C>T; NM_000350.3:c.4567C>T; NP_000341.2:p.Gln1523Ter1553188916522465
NM_000350.3:c.4793C>AUnited Arab EmiratesNC_000001.11:g.94021695G>TLikely Pathogenic, PathogenicLikely PathogenicStargardt Disease 1NG_009073.1:g.104455C>A; NM_000350.3:c.4793C>A; NP_000341.2:p.Ala1598Asp6175015599321
NM_000350.3:c.5461-10T>CUnited Arab EmiratesNC_000001.11:g.94011395A>GLikely Pathogenic, PathogenicPathogenicStargardt Disease 1NG_009073.1:g.114755T>C; NM_000350.3:c.5461-10T>C; NP_000341.2:p.?180072892870
NM_000350.3:c.5512C>GUnited Arab EmiratesNC_000001.11:g.94011334G>CLikely Pathogenic, PathogenicLikely PathogenicStargardt Disease 1NG_009073.1:g.114816C>G; NM_000350.3:c.5512C>G; NP_000341.2:p.His1838Asp6264256299380
NM_000350.3:c.5714+5G>AUnited Arab EmiratesNC_000001.11:g.94010795C>TLikely Pathogenic, PathogenicPathogenicStargardt Disease 1NG_009073.1:g.115355G>A; NM_000350.3:c.5714+5G>A; NP_000341.2:p.?6175140799403
NM_000350.3:c.5882G>ASomalia; United Arab E...NC_000001.11:g.94008251C>TBenign, Likely Pathogenic, Pathogenic, Uncertain SignificanceLikely Benign, Likely Pathogenic, PathogenicStargardt Disease 1NG_009073.1:g.117899G>A; NM_000350.3:c.5882G>A; NP_000341.2:p.Gly1961Glu18005537888
NM_000350.3:c.607_611delUnited Arab EmiratesNC_000001.11:g.94098952_94098956delLikely PathogenicStargardt Disease 1NG_009073.1:g.27195_27199del; NM_000350.3:c.607_611del; NP_000341.2:p.Ile203LeufsTer75
NM_000350.3:c.749delUnited Arab EmiratesNC_000001.11:g.94098814delLikely PathogenicStargardt Disease 1NG_009073.1:g.27337del; NM_000350.3:c.749del; NP_000341.2:p.Phe250SerfsTer12
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