Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)

Stable Identifier
R-HSA-5619036
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
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Five members of the NCKX (SLC24) family are all able to exchange one Ca2+ and one K+ for four Na+. SLC24A5 (NCKX5, located on the trans-Golgi membrane) is the prediminant K+-dependent Na+/Ca2+ exchanger in melanocytes and is one of a handful of genes thought to play a role in determining human skin colour (Wilson et al. 2013). Defects in SLC24A5 can cause oculocutaneous albinism 6 (OCA6; MIM:113750), a disorder characterised by a reduction or complete loss of melanin in the skin, hair and eyes. Patients with this condition show accompanied eye symptoms (Kamaraj & Purohit 2014, Morice-Picard et al. 2014).
Literature References
PubMed ID Title Journal Year
23224873 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

Wilson, S, Ginger, RS, Dadd, T, Gunn, D, Lim, FL, Sawicka, M, Sandel, M, Schnetkamp, PP, Green, MR

Adv. Exp. Med. Biol. 2013
23985994 SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

Morice-Picard, F, Lasseaux, E, François, S, Simon, D, Rooryck, C, Bieth, E, Colin, E, Bonneau, D, Journel, H, Walraedt, S, Leroy, BP, Meire, F, Lacombe, D, Arveiler, B

J. Invest. Dermatol. 2014
25093188 Mutational analysis of oculocutaneous albinism: a compact review

Kamaraj, B, Purohit, R

Biomed Res Int 2014
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BioModels Database
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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