HPS1 Antibody
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中文名稱：HPS1兔多克隆抗體
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貨號：CSB-PA010711GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：HPS1
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別名：Hermansky Pudlak syndrome 1 protein antibody; Hermansky Pudlak syndrome gene antibody; Hermansky Pudlak syndrome type 1 antibody; Hermansky-Pudlak syndrome 1 antibody; Hermansky-Pudlak syndrome 1 protein antibody; HPS antibody; HPS1 antibody; HPS1_HUMAN antibody; MGC5277 antibody
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human HPS1
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity 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：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB
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Protocols：
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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：Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.
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基因功能參考文獻：
- HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. PMID: 27593200
- BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38. PMID: 23084991
- Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. PMID: 21833017
- a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA PMID: 20662851
- Three different mutations in the HPS1 gene were found in the two families. PMID: 20514622
- Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles. PMID: 20048159
- Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) PMID: 12125811
- Four novel mutations were discovered and the diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications. PMID: 12442288
- identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles PMID: 12663659
- observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles PMID: 12756248
- Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. PMID: 12847290
- Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. PMID: 16020891
- The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. PMID: 19665357
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相關疾病：Hermansky-Pudlak syndrome 1 (HPS1)
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組織特異性：Ubiquitous.
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數據庫鏈接：
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