SLC24A4, NCKX4, Sodium/potassium/calcium exchanger 4, Na(+)/K(+)/Ca(2+)-exchange protein 4, Solute carrier family 24 member 4
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010],caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,function:Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).,polymorphism:Genetic variations in SLC24A4 are associated with skin/hair/eye pigmentation type 6 (SHEP6) [MIM:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.,similarity:Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily.,tissue specificity:Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine.,
