Property Summary

NCBI Gene PubMed Count 26
Grant Count 6
R01 Count 6
Funding $853,045.5
PubMed Score 38.93
PubTator Score 32.97

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q71RS6 A5X8Z8 A5X8Z9 Q14CT4 Q6DKH3
Symbols JSX
OCA6
NCKX5
SHEP4

Gene

PANTHER Protein Class (1)

 GWAS Trait (1)

Gene RIF (22)

PMID Text
27129268 mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients.
26491832 a novel homozygous mutation in SLC24A5 in two patients from French Guiana strengthens the importance of screening this gene in oculocutaneous albinism patients.
25801600 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.
25370040 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
24244186 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
24048645 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.
23985994 We observed a heterogeneous phenotype among seven oculocutaneous albinism patients with SLC24A5 mutations.
23364476 SLC24A5 is a previously unreported nonsyndromic oculocutaneous albinism candidate gene.
23224873 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.
20691427 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MQTKGGQTWARRALLLGILWATAHLPLSGTSLPQRLPRATGNSTQCVISPSSEFPEGFFTRQERRDGGII      1 - 70
IYFLIIVYMFMAISIVCDEYFLPSLEIISESLGLSQDVAGTTFMAAGSSAPELVTAFLGVFITKGDIGIS     71 - 140
TILGSAIYNLLGICAACGLLSNTVSTLSCWPLFRDCAAYTISAAAVLGIIYDNQVYWYEGALLLLIYGLY    141 - 210
VLVLCFDIKINQYIIKKCSPCCACLAKAMERSEQQPLMGWEDEGQPFIRRQSRTDSGIFYEDSGYSQLSI    211 - 280
SLHGLSQVSEDPPSVFNMPEADLKRIFWVLSLPIITLLFLTTPDCRKKFWKNYFVITFFMSAIWISAFTY    281 - 350
ILVWMVTITGETLEIPDTVMGLTLLAAGTSIPDTIASVLVARKGKGDMAMSNIVGSNVFDMLCLGIPWFI    351 - 420
KTAFINGSAPAEVNSRGLTYITISLNISIIFLFLAVHFNGWKLDRKLGIVCLLSYLGLATLSVLYELGII    421 - 490
GNNKIRGCGG                                                                491 - 500
//

Text Mined References (27)

PMID Year Title
27129268 2016 A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
26491832 2016 Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.
25801600 2015 SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes.
25370040 2015 Novel genomic signals of recent selection in an Ethiopian population.
25133637 2014 Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults.
24244186 2013 The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent.
24048645 2013 Molecular phylogeography of a human autosomal skin color locus under natural selection.
23985994 2014 SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
23364476 2013 Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
23224873 2013 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.
More...