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Catalog: YM0336
Size
Price
Status
Qty.
200μL
$600.00
3 weeks

0

100μL
$350.00
3 weeks

0

50μL
$210.00
3 weeks

0

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Main Information
Target

HPS-1

Host Species

Mouse

Reactivity

Human

Applications

WB, ELISA

MW

79kD (Calculated)

Conjugate/Modification


Unmodified

Detailed Information
Recommended Dilution Ratio
WB 1:500-1:2000; ELISA 1:10000; Not yet tested in other applications.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Specificity
HPS-1 Monoclonal Antibody detects endogenous levels of HPS-1 protein.
Purification
Affinity purification
Storage
-15°C to -25°C/1 year(Do not lower than -25°C)
MW(Calculated)
79kD
Modification
Unmodified
Clonality
Monoclonal
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Antigen&Target Information
Immunogen:
Purified recombinant fragment of HPS-1 expressed in E. Coli.
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Specificity:
HPS-1 Monoclonal Antibody detects endogenous levels of HPS-1 protein.
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Gene Name:
HPS1
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Protein Name:
Hermansky-Pudlak syndrome 1 protein
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Other Name:
HPS1 ;
HPS ;
Hermansky-Pudlak syndrome 1 protein
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Database Link:
Organism Gene ID SwissProt
Human 3257; Q92902;
Mouse O08983;
Background:
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. [provided by RefSeq, Aug 2015],
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Function:
Alternative products:Additional isoforms seem to exist,Disease:Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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.,Function:Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.,online information:HPS1 mutations,online information:Retina International's Scientific Newsletter,tissue specificity:Ubiquitous.,
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Cellular Localization:
cytoplasm,lysosome,integral component of plasma membrane,cytoplasmic, membrane-bounded vesicle,BLOC-3 complex,cytoplasmic vesicle,
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Tissue Expression:
Ubiquitous.
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Catalog: YM0336
Size
Price
Status
Qty.
200μL
$600.00
3 weeks

0

100μL
$350.00
3 weeks

0

50μL
$210.00
3 weeks

0

Add to cart

Collected

Collect

Customized Service

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