Property Summary

NCBI Gene PubMed Count 26
PubMed Score 38.93
PubTator Score 32.97

Knowledge Summary

Patent

No data available

Expression

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)
19944766 Observational study of gene-disease association. (HuGE Navigator)
19384953 Observational study of gene-disease association. (HuGE Navigator)
19336370 Observational study of gene-disease association. (HuGE Navigator)
19060277 Observational study of gene-disease association. (HuGE Navigator)
18650849 higher tyrosinase protein abundance was not observed for any NCKX5-111 allele variation
18637132 Greek subjects showed a prevalence of the Thr(111) allele variant of the SLC24A5 gene, even among subjects with darker skin pigmentation or phototype.
18637132 Observational study of gene-disease association. (HuGE Navigator)
18166528 non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity
18166528 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.
17999355 Observational study of gene-disease association. (HuGE Navigator)
16847698 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.
16357253 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

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.
20691427 2010 Genetic associations of brain structural networks in schizophrenia: a preliminary study.
19944766 2010 A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia.
19384953 2009 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
18650849 2009 Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
18637132 2009 A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects.
18166528 2008 SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.
17999355 2007 A genomewide association study of skin pigmentation in a South Asian population.
17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
17081065 2006 Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.
16847698 2007 Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16357253 2005 SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14625281 2004 Molecular cloning of a sixth member of the K+-dependent Na+/Ca2+ exchanger gene family, NCKX6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.