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SLC24A5 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. De plus, nous expédions SLC24A5 Anticorps (21) et SLC24A5 Protéines (3) et beaucoup plus de produits pour cette protéine.
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
mutations in SLC24A4 (Montrer Slc24a4 Kits ELISA) and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients.
a novel homozygous mutation in SLC24A5 in two patients from French Guiana strengthens the importance of screening this gene in oculocutaneous albinism patients.
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
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.
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.
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
We observed a heterogeneous phenotype among seven oculocutaneous albinism patients with SLC24A5 mutations.
SLC24A5 is a previously unreported nonsyndromic oculocutaneous albinism candidate gene.
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.
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
non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 (Montrer SLC24A2 Kits ELISA) activity
Mutation of Slc24a5 results in marked hypopigmentation of melanosomes in optic cup-derived pigmented epithelium in the eyes.
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.
solute carrier family 24, member 5
, K-dependent Na,Ca exchanger 5
, Na(+)/K(+)/Ca(2+)-exchange protein 5
, protein golden
, sodium/potassium/calcium exchanger 5
, solute carrier family 24 member 5
, sodium/potassium/calcium exchanger 5-like
, ion transporter JSX
, oculocutaneous albinism 6 (autosomal recessive)
, K-independent Na+/Ca2+ exchanger JSX
, Na-Ca exchanger 5
, sodium/potassion/calcium exchanger 5
, solute carrier family 24 (sodium/potassium/calcium exchanger), member 5