HPS4 (NM_022081) Human Recombinant Protein
Product Specifications
Background
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC) . BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Synonyms
BLOC3S2; LE
Gene ID
89781
UniProt
Q9NQG7, A8K2E6, Q6P1K3
Accession Number mRNA
NM_022081
Chromosomal Location
22q12.1
Expression System
HEK293T
Tag
C-Myc/DDK
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Molecular Weight
76.7 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
HPS4
Species
Human
Protein ID
NP_071364
Overview
Recombinant protein of human Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/89781
Uniprot URL
https://www.uniprot.org/uniprot/Q9NQG7
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_022081
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_071364
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