Protein Name ATP binding cassette subfamily A member 1
Organism Homo sapiens
Gene ID 19
Gene Symbol

ABCA1

UniProt O95477 (ABCA1_HUMAN), B7XCW9 (B7XCW9_HUMAN), A0A7I2V5U0 (A0A7I2V5U0_HUMAN), B2RUU2 (B2RUU2_HUMAN)
Relationships Total Number of functionally related compound(s) : 574
Total Number of Articles : 1502
Description

ATP binding cassette subfamily A member 1

Gene Summary

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. [provided by RefSeq, Sep 2019]

synonyms
  • phospholipid-transporting ATPase ABCA1
  • ATP-binding cassette sub-family A member 1
  • ATP-binding cassette transporter A1
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Properties