ABCA7

1034727403ENSG00000064687ENSMUSG00000035722Q8IZY2Q91V24NM_019112NM_033308NM_013850NM_001347081NP_061985NP_001334010NP_038878ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene. ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene. 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. 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. This article incorporates text from the United States National Library of Medicine, which is in the public domain.