Sodium/potassium/calcium exchanger 5 (NCKX5), also known as solute carrier family 24 member 5 (SLC24A5), is a protein that in humans is encoded by the SLC24A5 gene that has a major influence on natural skin colour variation. [5]

Feb 8, 2025 · 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.

Mar 30, 2025 · SLC24A5 (Solute Carrier Family 24 Member 5) is a Protein Coding gene. Diseases associated with SLC24A5 include Albinism, Oculocutaneous, Type Vi and Oculocutaneous Albinism. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters.

Sequencing 11.74 kb of SLC24A5 in 95 individuals worldwide reveals that the rs1426654-A alleles in South Asian and West Eurasian populations are monophyletic and occur on the background of a common haplotype that is characterized by low genetic diversity. We date the coalescence of the light skin associated allele at 22–28 KYA.

Dec 10, 2024 · Title: Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene. NCKX5 is not a plasma membrane resident and is exclusively located in the trans Golgi network.

Here we report an investigation of haplotypes of SLC24A5 as AIMs in providing individual ancestry estimates. This study further supports the role of human SLC24A5 gene in skin pigmentation suggesting that variations in SLC24A5 haplotypes can correlate with human migration and ancestry. The difference in haplotype frequencies between the major ...

Dec 16, 2005 · Here we show that zebrafish golden mutants share these melanosomal changes and that golden encodes a putative cation exchanger slc24a5 (nckx5) that localizes to an intracellular membrane, likely the melanosome or its precursor.

Dec 10, 2018 · The gene that causes lighter skin pigmentation, SLC24A5, was introduced from eastern African to southern African populations just 2,000 years ago.

Feb 13, 2018 · SLC24A5 belongs to a family of potassium-dependent sodium/calcium exchangers. Members of this family have 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments (Schnetkamp, 2004). The human SLC24A5 gene has a role in skin pigmentation (Lamason et al., 2005).

SLC24A5 - solute carrier family 24 member 5 Synonym(s): JSX, OCA6, oculocutaneous albinism 6 (autosomal recessive), Na/Ca-K exchanger 5, NCKX5 Previous symbol(s) and name(s): solute carrier family 24 (sodium/potassium/calcium exchanger), member 5, …