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 LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000350.3:c.1648G>ALebanonchr1:94063224Likely Pathogenic,PathogenicStargardt Disease 1NG_009073.1:g.62926G>A; NM_000350.3:c.1648G>A; NP_000341.2:p.Gly550Arg6174855899070
NM_000350.3:c.1804C>TJordanchr1:94062710PathogenicStargardt 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 SignificanceStargardt 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 PathogenicStargardt 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>GUncertain SignificanceStargardt 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.94048954delStargardt Disease 1NG_009073.1:g.77196del; NM_000350.3:c.2657del; NP_000341.2:p.Cys886PhefsTer15
NM_000350.3:c.2791G>ASaudi Arabiachr1:94047046Likely 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>TPathogenicStargardt 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 PathogenicRetinitis Pigmentosa 19NG_009073.1:g.84901G>A; NM_000350.3:c.3482G>A; NP_000341.2:p.Arg1161His768278935236102
NM_000350.3:c.3610G>ASyriachr1:94037348PathogenicCone-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>CStargardt 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>APathogenicStargardt 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,PathogenicStargardt 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>APathogenicStargardt 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,PathogenicStargardt Disease 1NG_009073.1:g.104455C>A; NM_000350.3:c.4793C>A; NP_000341.2:p.Ala1598Asp6175015599321
NM_000350.3:c.5882G>ASomalia; United Arab E...NC_000001.11:g.94008251C>TLikely Pathogenic,Pathogenic,Risk factor,Uncertain SignificanceStargardt 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.94098951_94098955delStargardt 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.94098814delStargardt Disease 1NG_009073.1:g.27337del; NM_000350.3:c.749del; NP_000341.2:p.Phe250SerfsTer12
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