Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)

Stable Identifier
R-HSA-5619036
Type
Pathway
Species
Homo sapiens
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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
23985994 SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

Morice-Picard, F, Lasseaux, E, Fran├žois, 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
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
25093188 Mutational analysis of oculocutaneous albinism: a compact review

Kamaraj, B, Purohit, R

Biomed Res Int 2014
Participants
Participant Of
Disease
Name Identifier Synonyms
oculocutaneous albinism 0050632
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Reviewed
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