Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+

Stable Identifier
Reaction [transition]
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. 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 accompanying eye symptoms. Mutations causing OCA6 are W591* and L454Ffs*33 (Mondal et al. 2012, Wei et al. 2013).

Literature References
PubMed ID Title Journal Year
23364476 Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism

Yang, L, Liu, XZ, Zang, DJ, He, X, Li, W, Wang, Y, Wei, AH, Zhang, Z, Zhou, ZY, Dai, LL, Zhang, MR, Yang, XM

J. Invest. Dermatol. 2013
23010199 Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings

Mondal, M, Ray, K, Sengupta, M, Sil, A, Samanta, S

Gene 2012
Catalyst Activity

calcium, potassium:sodium antiporter activity of SLC24A5 mutants [trans-Golgi network membrane]

Normal reaction
Functional status

Loss of function of SLC24A5 mutants [trans-Golgi network membrane]

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