BLOC1S3 (NM_212550) Human Recombinant Protein
Product Specifications
Background
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
Synonyms
BLOS3; HPS8; RP
Gene ID
388552
UniProt
Q6QNY0
Accession Number mRNA
NM_212550
Chromosomal Location
19q13.32
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
21.1 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
BLOC1S3
Species
Human
Protein ID
NP_997715
Overview
Recombinant protein of human biogenesis of lysosomal organelles complex-1, subunit 3 (BLOC1S3)
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/388552
Uniprot URL
https://www.uniprot.org/uniprot/Q6QNY0
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_212550
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_997715
Curated Selection
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