20/03/2024
CHROMOSOMAL THERAPY
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A gene that makes a protein involved in giving color to the skin, hair, and eyes. Mutations (changes) in the SLC24A5 gene have been found in an inherited condition called oculocutaneous albinism.
SLC24A5 is a previously unreported nonsyndromic oculocutaneous albinism candidate gene. NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes.
One of the key pigmentation genes in humans is SLC24A5 (OMIM 609802). It is located on chromosome 15q21. 1 and encodes a protein called NCKX5. The association of this gene with lighter pigmentation was initially discovered in zebrafish.
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