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]

Overview

Recombinant protein of human biogenesis of lysosomal organelles complex-1, subunit 3 (BLOC1S3)

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.