| Alias_names | solute carrier family 24, member 5 |
| solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 |
| Alias_symbol (synonym) | JSX |
| OCA6 |
| Other alias | Oculocutaneous Albinism 6 |
| Na(+)/K(+)/Ca(2+)-Exchange Protein 5 |
| Solute Carrier Family 24, Member 5 |
| NCKX5 |
| P |
| Solute Carrier Family 24 Member 5 |
| Ion Transporter JSX |
| SHEP4 |
| HGNC (Hugo) |
SLC24A5 |
| LocusID (NCBI) |
283652 |
| Atlas_Id |
73332 |
| Location |
15q21.1 [Link to chromosome band 15q21] |
| Location_base_pair |
Starts at 48120972 and ends at 48142392 bp from pter ( according to hg19-Feb_2009) [Mapping SLC24A5.png] |
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| | Cytogenetic band showing SLC24A5 locus (Ref: http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC24A5&keywords=SLC24A5) |
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| Description | The gene encodes a cation exchanger which is 500 amino acids protein of molecular mass 54888 Da; this multi-pass membrane protein is an intracellular potassium-dependent sodium/calcium exchanger with 2 large hydrophilic loops and 2 sets of multiple trans-membrane-spanning segments. The first large hydrophilic loop is located extracellularly at the N-terminus while the other is cytoplasmic and separates the two sets of transmembrane domains. It belongs to sodium/potassium/calcium exchanger family, SLC24A subfamily. |
| Expression | Due to its localization in the melanosomal membrane, SLC24A5 is thought to be expressed in the melanocytes (Wilson S et al., 2013). Interestingly, the expression of the gene in the following tissue types are evident by its existence in the corresponding cDNA libraries: B-cell, brain, cerebellum, cerebrum, colon, embryonic tissue, fetus, gastrointestinal tract, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, nervous, pancreas, pancreatic islet, placenta, prostate, skin, stem cell, stomach, testis, thymus, uterus and vascular tissue (http://cgap.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=710240). |
| Localisation | SLC24A5 is expressed in the trans-Golgi network of melanocytes (Wilson S et al., 2013). |
| Function | The precise function of SLC24A5 is not yet known. However, the potential functions include: (a) transporting 1 Ca2+ and 1 K+ to the melanosome in exchange for 4 cytoplasmic Na (Lamason RL et al., 2005); (b) Influencing natural variation in skin pigmentation via an unknown mechanism affecting cellular sterol levels (Wilson S et al., 2013). |
| Homology | It belongs to Solute Carrier Family 24 (http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=202). |
| Germinal | SLC24A5 mutations are responsible for Oculocutaneous Albinism type 6 (OCA6). Only 9 SLC24A5 mutations have been reported till date - one patient from India, one from China, two from France, three from Portugal, one from Belgium and one from Syria (Mondal et al. 2012; Wei et al., 2013; Fanny et al., 2014). Patients are generally characterized by light hair at birth that darkens with age, white skin, transparent irises, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. In a man from eastern India who had extreme hypopigmentation resulting in pinkish-white skin, but with dark brown hair and brown irises, was found to have a 4-bp insertion in the SLC24A5 gene as homozygous genotype (Mondal et al, 2012). |
| Somatic | Somatic variations in SLC24A5 have been identified in cancers (https://dcc.icgc.org/mutations/MU45848787; http://cancer.sanger.ac.uk/cosmic/search?q=SLC24A5), but no causality have been reported. |
| SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans |
| Lamason RL, Mohideen MA, Mest JR, Wong AC, Norton HL, Aros MC, Jurynec MJ, Mao X, Humphreville VR, Humbert JE, Sinha S, Moore JL, Jagadeeswaran P, Zhao W, Ning G, Makalowska I, McKeigue PM, O'donnell D, Kittles R, Parra EJ, Mangini NJ, Grunwald DJ, Shriver MD, Canfield VA, Cheng KC |
| Science 2005 Dec 16;310(5755):1782-6 |
| PMID 16357253 |
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| 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 Dec 15;511(2):470-4 |
| PMID 23010199 |
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| 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 Feb;134(2):568-71 |
| PMID 23985994 |
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| 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 Jul;133(7):1834-40 |
| PMID 23364476 |
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| 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;961:95-107 |
| PMID 23224873 |
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