ATP-Binding Cassette, Subfamily A, Member 1

Alternative Names

  • ABCA1
  • ATP-Binding Cassette 1
  • ABC1
  • ATP-Binding Cassette Transporter 1
  • ABC Transporter 1
  • Cholesterol Efflux Regulatory Protein
  • CERP

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

600046

NCBI Gene ID

19

Uniprot ID

O95477

Length

147,150 bases

No. of Exons

50

Protein Name

Phospholipid-transporting ATPase ABCA1

Molecular Mass

254302 Da

Amino Acid Count

2261

Genomic Location

chr9:104,781,005-104,928,154

Gene Map Locus
9q31.1

Description

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005502.4:c.*1440C>TUnited Arab EmiratesNC_000009.12:g.104782875G>ABenignAssociationType 2 Diabetes MellitusNG_007981.1:g.150281C>T; NM_005502.4:c.*1440C>T; NP_005493.2:p.?4149339364351
NM_005502.4:c.161-371=United Arab EmiratesNC_000009.12:g.104884939=AssociationType 2 Diabetes MellitusNG_007981.1:g.48217=; NM_005502.4:c.161-371=; NP_005493.2:p.?4149268
NM_005502.4:c.422-161T>CUnited Arab EmiratesNC_000009.12:g.104861961A>GBenignAssociationType 2 Diabetes MellitusNG_007981.1:g.71195T>C; NM_005502.4:c.422-161T>C; NP_005493.2:p.?22498911229375
NM_005502.4:c.5927+18T>CUnited Arab EmiratesNC_000009.12:g.104790904A>GBenignAssociationType 2 Diabetes MellitusNG_007981.1:g.142252T>C; NM_005502.4:c.5927+18T>C; NP_005493.2:p.?2020927928662
NM_005502.4:c.656G>AUnited Arab EmiratesNC_000009.12:g.104858586C>TBenignAssociationType 2 Diabetes MellitusNG_007981.1:g.74570G>A; NM_005502.4:c.656G>A; NP_005493.2:p.Arg219Lys22308069506
NM_005502.4:c.67-5594C>TUnited Arab EmiratesNC_000009.12:g.104894789G>AAssociationType 2 Diabetes MellitusNG_007981.1:g.38367C>T; NM_005502.4:c.67-5594C>T; NP_005493.2:p.?3905000
NM_005502.4:c.-92-11237T>CUnited Arab EmiratesNC_000009.12:g.104915008A>GAssociationType 2 Diabetes MellitusNG_007981.1:g.18148T>C; NM_005502.4:c.-92-11237T>C; NP_005493.2:p.?4149263
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