SLC24A5 Antibody, Biotin conjugated

1. both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians PMID: 27866970
2. Letter/Case Report: OCA6 mutation in 6 year old boy with oculocutaneous albinism. PMID: 26686029
3. mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients. PMID: 27129268
4. a novel homozygous mutation in SLC24A5 in two patients from French Guiana strengthens the importance of screening this gene in oculocutaneous albinism patients. PMID: 26491832
5. the SLC24A5 gene locus known to be associated with skin pigmentation was in the top selection signals in the Wolaita, and the alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (SLC24A5) associated with light skin pigmentation PMID: 25370040
6. Polymorphisms of SLC24A5 were found to be associated with skin, hair, and eye color in a phenotypically diverse Brazilian population, considered useful in forensic science for crime investigation and facial reconstruction in unknown bodies. PMID: 25801600
7. All chromosomes carrying the A111T allele of SLC24A5 gene share a single 78-kb haplotype indicating that all instances of this mutation in human populations share a common origin. PMID: 24048645
8. Sequencing 11.74 kb of SLC24A5 in 95 individuals worldwide reveals that the rs1426654-A alleles in South Asian and West Eurasian populations are monophyletic and occur on the background of a common haplotype that is characterized by low genetic diversity PMID: 24244186
9. We observed a heterogeneous phenotype among seven oculocutaneous albinism patients with SLC24A5 mutations. PMID: 23985994
10. SLC24A5 is a previously unreported nonsyndromic oculocutaneous albinism candidate gene. PMID: 23364476
11. 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. PMID: 23224873
12. Observational study of gene-disease association. (HuGE Navigator) PMID: 20691427
13. the variant allele is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation PMID: 16357253
14. The p.L374F allele in SLC45A2 is a more specific ancestry informative marker than the p.A111T allele in SLC24A5, as it clearly distinguishes Sri Lankans from Europeans. PMID: 16847698
15. non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity PMID: 18166528
16. Greek subjects showed a prevalence of the Thr(111) allele variant of the SLC24A5 gene, even among subjects with darker skin pigmentation or phototype. PMID: 18637132
17. higher tyrosinase protein abundance was not observed for any NCKX5-111 allele variation PMID: 18650849
18. Observational study of gene-disease association. (HuGE Navigator) PMID: 19944766
19. Observational study of gene-disease association. (HuGE Navigator) PMID: 19384953
20. Observational study of gene-disease association. (HuGE Navigator) PMID: 19336370
21. Observational study of gene-disease association. (HuGE Navigator) PMID: 19060277
22. Observational study of gene-disease association. (HuGE Navigator) PMID: 18637132
23. Observational study of gene-disease association. (HuGE Navigator) PMID: 17999355
24. The NCKX5 protein, encoded by the SLC24A5 gene, is localized to the trans-Golgi network where it may influence melanosomal assembly. The SLC24A5 allele encoding threonine-111 confers reduced NCKX5 activity. PMID: 18166528

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HGNC: 20611

OMIM: 113750

KEGG: hsa:283652

STRING: 9606.ENSP00000341550

UniGene: Hs.710240