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Mouse Anti-HPS1 Recombinant Antibody (5G12G2) (CBMAB-H2924-FY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
5G12G2
Application
WB, ELISA

Basic Information

Specificity
Human
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
Antiserum
Preservative
0.03% Sodium azide
Concentration
1 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1
Introduction
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22.
Entrez Gene ID
3257
UniProt ID
Q92902
Alternative Names
HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1; HPS; Hermansky-Pudlak Syndrome 1 Protein Isoform; Hermansky-Pudlak Syndrome 1 Protein; Hermansky-Pudlak Syndrome 1; Hermansky-Pudlak Syndrome; BLOC3S1
Function
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 (PubMed:23084991).
Biological Process
Lysosome organization Source: ProtInc
Melanosome assembly Source: UniProtKB
Response to stimulus Source: UniProtKB-KW
Vesicle-mediated transport Source: InterPro
Visual perception Source: UniProtKB-KW
Cellular Location
BLOC-3 complex; Cytosol; Lysosome; Cytoplasm; Cytoplasmic vesicle
Involvement in disease
Hermansky-Pudlak syndrome 1 (HPS1):
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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