HPS1 Antibody

說明書

中文名稱：

HPS1兔多克隆抗體
貨號：

CSB-PA856438ESR1HU
規格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human small intestine tissue using CSB-PA856438ESR1HU at dilution of 1:100

Immunohistochemistry of paraffin-embedded human thymus tissue using CSB-PA856438ESR1HU at dilution of 1:100
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) HPS1 Polyclonal antibody
Uniprot No.：

Q92902
基因名：

HPS1
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
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Hermansky-Pudlak syndrome 1 protein (1-324AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
產品提供形式：

Liquid
應用范圍：

ELISA, IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:20-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

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.
基因功能參考文獻：
1. HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. PMID: 27593200
2. 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
3. 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
4. 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
5. Three different mutations in the HPS1 gene were found in the two families. PMID: 20514622
6. 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
7. Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) PMID: 12125811
8. Four novel mutations were discovered and the diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications. PMID: 12442288
9. identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles PMID: 12663659
10. 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
11. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. PMID: 12847290
12. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. PMID: 16020891
13. 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)
組織特異性：

Ubiquitous.
數據庫鏈接：

HGNC: 5163

OMIM: 203300

KEGG: hsa:3257

STRING: 9606.ENSP00000326649

UniGene: Hs.404568

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