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Solute carrier family 24, member 5

SLC24A5, NCKX5, gol-1
This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: BLS, HAIR, TRPC1, CAN, MC1R
Papers on SLC24A5
Detecting genomic signatures of natural selection with principal component analysis: application to the 1000 Genomes data.
Blum et al., Berkeley, United States. In Mol Biol Evol, Jan 2016
The correlations between genetic variation and each principal component provide well-known targets for positive selection (EDAR, SLC24A5, SLC45A2, DARC), and also new candidate genes (APPBPP2, TP1A1, RTTN, KCNMA, MYO5C) and non-coding RNAs.
Molecular genetic response of Xiphophorus maculatus-X. couchianus interspecies hybrid skin to UVB exposure.
Walter et al., San Marcos, United States. In Comp Biochem Physiol C Toxicol Pharmacol, Dec 2015
We characterized a group of unique UVB-responsive genes in Sp-Couch hybrid including dct, pmela, tyr, tyrp1a, slc2a11b, rab38a, rab27, tspan10, slc45a2, oca2, slc24a5, ptn and mitfa.
Novel genomic signals of recent selection in an Ethiopian population.
Rotimi et al., Bethesda, United States. In Eur J Hum Genet, Aug 2015
Finally, 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 in Eurasian populations were of high frequency (47.9%) in this Omotic-speaking indigenous Ethiopian population.
SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes.
Fridman et al., São Paulo, Brazil. In Leg Med (tokyo), Jul 2015
Herein, we evaluated the association between polymorphisms in the genes SLC24A5 (rs1426654) and ASIP (rs6058017) with skin, eyes and hair colors, in 483 healthy individuals from Brazilian population for attainable use in forensic practice.
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
Li et al., Beijing, China. In J Genet Genomics, Jul 2015
Three missense PUAs (p.C112R, p.H363R and p.G379V of TYR) and one in-frame deletional PUA (p.S222del of SLC24A5) led to fetuses with OCA when co-inherited with other disease causative alleles.
Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes.
Alonso et al., Leioa, Spain. In Ann Hum Biol, 2014
SUBJECTS AND METHODS: This study assessed the existence of CNVs in every exon of candidate genes: TYR, TYRP1, DCT, MC1R and SLC24A5, using the Multiplex Amplifiable Probe Hybridization technique (MAPH).
Impact of Na+/Ca2+ Exchangers on Therapy Resistance of Ovary Carcinoma Cells.
Lang et al., In Cell Physiol Biochem, 2014
RESULTS: The transcript levels of NCX3, NCKX4, NCKX5, and NCKX6, slope and peak of x0394;[Ca2+]i as well as Ica were significantly higher in therapy resistant than in therapy sensitive ovary carcinoma cells.
Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.
Mors et al., Havana, Cuba. In Plos Genet, 2014
Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 are strongly associated with melanin levels in the sample.
Increasing the complexity: new genes and new types of albinism.
Li et al., Madrid, Spain. In Pigment Cell Melanoma Res, 2014
In addition, two new genes have been identified as causing OCA when mutated: SLC24A5 and C10orf11, and hence designated as OCA6 and OCA7, respectively.
Mutational analysis of oculocutaneous albinism: a compact review.
Purohit et al., Vellore, India. In Biomed Res Int, 2013
Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively.
Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.
Ludwig et al., Berlin, Germany. In Semin Cell Dev Biol, 2013
Whereas similar disorders and similar-looking coat colour phenotypes sometimes have a different genetic background (e.g., deafness [EDN3/EDNRB, MITF, PAX and SNAI2] and visual diseases [OCA2, RAB38, SLC24A5, SLC45A2, TRPM1 and TYR]).
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.
Green et al., United Kingdom. In Adv Exp Med Biol, 2012
Variation of a non-synonymous single-nucleotide polymorphism (nsSNP; rs1426654) in the gene (SLC24A5) encoding the NCKX5 protein is associated with differences in constitutive skin colour in South Asians.
Genetics of pigmentation and melanoma predisposition.
Leachman et al., Salt Lake City, United States. In G Ital Dermatol Venereol, 2010
Genome-wide association studies (GWAS) have unveiled single nucleotide polymorphisms (SNPs) or genetic variants in MC1R, TPCN2, ASIP, KITLG, NCKX5, TYR, IRF4, OCA2, and TYRP1 pigmentation genes.
A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects.
Stratigos et al., In Exp Dermatol, 2009
Greek subjects showed a prevalence of the Thr(111) allele variant of the SLC24A5 gene, even among subjects with darker skin pigmentation or phototype.
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
Sturm et al., Australia. In J Invest Dermatol, 2009
higher tyrosinase protein abundance was not observed for any NCKX5-111 allele variation
Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.
Rice et al., The Woodlands, United States. In Vet Pathol, 2008
Mutation of Slc24a5 results in marked hypopigmentation of melanosomes in optic cup-derived pigmented epithelium in the eyes.
SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.
Green et al., United Kingdom. In J Biol Chem, 2008
non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity
Genome-wide detection and characterization of positive selection in human populations.
Stewart et al., Cambridge, United States. In Nature, 2007
Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2.
Koda et al., Kurume, Japan. In Int J Legal Med, 2007
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.
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
Cheng et al., United States. In Science, 2006
golden mutants are associated with diminished number, size and density of melanosomes; golden encodes a putative cation exchanger slc24a5 that localizes to an intracellular membrane, likely the melanosome or its precursor
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