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]

Overview

Recombinant protein of human Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1

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.