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

Stable Identifier
R-HSA-5626356
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
23010199 Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings

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

Gene 2012
23364476 Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism

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

J. Invest. Dermatol. 2013
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
calcium, potassium:sodium antiporter activity of SLC24A5 mutants [trans-Golgi network membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
oculocutaneous albinism 0050632
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