HPS1 DNAxPab
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More Files
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Specification
Product Description
Rabbit polyclonal antibody raised against a partial-length human HPS1 DNA using DNAx™ Immune technology.
Technology
Immunogen
Extracellular membrane domain (ECD) human DNA
Host
Rabbit
Reactivity
Human
Purification
Protein A
Quality Control Testing
Antibody reactive against mammalian transfected lysate.
Storage Buffer
In 1x PBS, pH 7.4
Storage Instruction
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot (Transfected lysate)
Immunofluorescence (Transfected cell)
Flow Cytometry (Transfected cell)
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Gene Info — HPS1
Entrez GeneID
3257GeneBank Accession#
NM_182639.1Protein Accession#
NP_872577.1Gene Name
HPS1
Gene Alias
HPS, MGC5277
Gene Description
Hermansky-Pudlak syndrome 1
Gene Ontology
HyperlinkGene Summary
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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq
Other Designations
Hermansky-Pudlak syndrome 1 protein|Hermansky-Pudlak syndrome type 1|OTTHUMP00000020245|OTTHUMP00000020246
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Interactome
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Disease
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