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MLPH Antibody

  • 货号：
    CSB-PA014640GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9BV36
  • 基因名：
    MLPH
  • 别名：
    2210418F23Rik antibody; 5031433I09Rik antibody; AW228792 antibody; D1Wsu84e antibody; Exophilin 3 antibody; Exophilin-3 antibody; l(1)-3Rk antibody; l1Rk3 antibody; Leaden antibody; Leaden protein antibody; ln antibody; Melanophilin antibody; MELPH_HUMAN antibody; MGC2771 antibody; MGC59733 antibody; Mlph antibody; Slac 2a antibody; SlaC2-a antibody; Slp homolog lacking C2 domains a antibody; Synaptotagmin like protein 2a antibody; Synaptotagmin like protein lacking C2 domains A antibody; Synaptotagmin-like protein 2a antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human MLPH
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC,IF
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
  • 基因功能参考文献：
    1. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. PMID: 27016801
    2. we detected two potential associations with well-recognized skin cancer risk traits that modify miRNA-mRNA interactions: rs2325814 in the 3'UTR of the MLPH gene and rs752107 in the 3'UTR of the WNT3A gene. PMID: 28266728
    3. These results unravel a hidden link between AR and a functional putative PCa risk SNP, whose allele alteration affects androgen regulation of its host gene MLPH. PMID: 26411452
    4. The results showed that Rab27A(Q78L) is unable to localize on mature melanosomes and that its inhibitory activity on melanosome transport is completely dependent on its binding to the Rab27A effector Slac2-a/melanophilin. PMID: 24584932
    5. The pathologic defect in Griscelli syndrome 3 came from the MLPH R35W substitution, which induced aggregation of melanosomes in the perinuclear area of melanocytes because of failure to interact with RAB27A. PMID: 21883982
    6. Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport PMID: 11856727
    7. links rab27a and myosin Va function in melanosome transport PMID: 11980908
    8. Melanophilin has a role in bridging Rab27a on melanosomes and myosin Va on actin filaments during melanosome transport. PMID: 12062444
    9. SHD1 of Slac2-a/melanophilin alone is both necessary and sufficient for high affinity specific recognition of the GTP-bound form of Rab27A PMID: 12189142
    10. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). PMID: 12897212
    11. deletion 2q37.3 is implicated in autism PMID: 15517821
    12. The C-terminus of Slac2-a/melanophilin contains a novel actin-binding site, which may be involved in capture of Rab27-containing organelles in the actin-enriched cell periphery. PMID: 12221080
    13. Slac2-a/melanophilin contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slac2-a specifically and directly binds the GTP-bound form of Rab27A and Rab27B (PMID: 11773082). The C-terminus of Slac2-a directly binds myosin Va. PMID: 11856727

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  • 相关疾病：
    Griscelli syndrome 3 (GS3)
  • 亚细胞定位：
    Cytoplasm.
  • 数据库链接：

    HGNC: 29643

    OMIM: 606526

    KEGG: hsa:79083

    STRING: 9606.ENSP00000264605

    UniGene: Hs.102406