SLC24A5 (solute carrier family 24 (sodium/potassium/calcium exchanger), member 5)

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Title: SLC24A5 (solute carrier family 24 (sodium/potassium/calcium exchanger), member 5)
Author: Ray, Kunal; Sengupta, Mainak; Ghosh, Sampurna
Abstract: SLC24A5 is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein. Sequence variations in this gene have been associated with differences in skin pigmentation, and the defective protein leads to Oculocutaneous albinism type VI, OCA6.
Subject: OCA6; albinism; SLC24A5; Genes Section; Adolescent; Albinism, Oculocutaneous/*classification/*genetics; Antiporters/*genetics; Child, Preschool; Female; Genotype; Humans; Infant; Male; Mutation; Phenotype; Young Adult; Adolescent; Adult; Albinism, Oculocutaneous/*diagnosis/*genetics/pathology
Publisher: ARMGHM - Atlas Génétique des Cancers
Date: 2017

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