Entrez 10347 | Ensembl ENSG00000064687 | |
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Aliases ABCA7, ABCA-SSN, ABCX, AD9, ATP binding cassette subfamily A member 7 External IDs MGI: 1351646 HomoloGene: 22783 GeneCards: ABCA7 | ||
ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.
Contents
Function
The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, CFTR/MRP, ALD (adrenoleukodystrophy), OABP, GCN20, and 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. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. Alternative splicing of this gene results in two transcript variants.
Clinical significance
Protein-disrupting variants in ABCA7 have been shown to predispose to Alzheimer's disease. The Icelandic database of Decode Genetics has shown a doubled probability of developing Alzheimer's disease when inactive variants of the ABCA7 gene are present.