GENETIC ENCYCLOPEDIA
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gene: ABCA1

id19
symbolABCA1
organismHomo sapiens
full nameATP binding cassette subfamily A member 1
summaryThe 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]
variant-disease

NM_005502.4(ABCA1):c.3738+1G>C AND Tangier disease

NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) AND Tangier disease

NG_007981.1:g.[101177_102434delins36;107248_127198delins21] AND Tangier disease

NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs) AND Familial hypoalphalipoproteinemia

NM_005502.4(ABCA1):c.*2089G>A AND Familial High Density Lipoprotein Deficiency

... 426 more


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