SLC24A5 Antibody, FITC conjugated
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中文名稱：SLC24A5兔多克隆抗體, FITC偶聯
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貨號：CSB-PA754654LC01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) SLC24A5 Polyclonal antibody
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Uniprot No.：
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基因名：SLC24A5
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別名：Ion transporter JSX antibody; JSX antibody; Na(+)/K(+)/Ca(2+)-exchange protein 5 antibody; NCKX5 antibody; NCKX5_HUMAN antibody; Slc24a5 antibody; Sodium/potassium/calcium exchanger 5 antibody; Solute carrier family 24 (sodium/potassium/calcium exchanger),member 5 antibody; Solute carrier family 24 member 5 antibody; Solute carrier family 24,member 5 antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Sodium/potassium/calcium exchanger 5 protein (240-298AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：FITC
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產品提供形式：Liquid
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+).
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基因功能參考文獻：
- both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians PMID: 27866970
- Letter/Case Report: OCA6 mutation in 6 year old boy with oculocutaneous albinism. PMID: 26686029
- mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients. PMID: 27129268
- 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
- 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
- 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
- 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
- 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
- We observed a heterogeneous phenotype among seven oculocutaneous albinism patients with SLC24A5 mutations. PMID: 23985994
- SLC24A5 is a previously unreported nonsyndromic oculocutaneous albinism candidate gene. PMID: 23364476
- 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
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20691427
- 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
- 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
- non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity PMID: 18166528
- 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
- higher tyrosinase protein abundance was not observed for any NCKX5-111 allele variation PMID: 18650849
- Observational study of gene-disease association. (HuGE Navigator) PMID: 19944766
- Observational study of gene-disease association. (HuGE Navigator) PMID: 19384953
- Observational study of gene-disease association. (HuGE Navigator) PMID: 19336370
- Observational study of gene-disease association. (HuGE Navigator) PMID: 19060277
- Observational study of gene-disease association. (HuGE Navigator) PMID: 18637132
- Observational study of gene-disease association. (HuGE Navigator) PMID: 17999355
- 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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相關疾病：Albinism, oculocutaneous, 6 (OCA6)
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亞細胞定位：Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Melanosome. Note=Enriched in late-stage melanosomes (PubMed:17081065).
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蛋白家族：Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family, SLC24A subfamily
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