Harman Patil

ABCA7

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Species  Human
Entrez  10347
Human  Mouse
Ensembl  ENSG00000064687
ABCA7
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.

References

ABCA7 Wikipedia


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