HMBS (NM_000190) Human Recombinant Protein

Product Specifications

Background

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Overview

Recombinant protein of human hydroxymethylbilane synthase (HMBS), transcript variant 1

Synonyms

PBG-D; PBGD; PORC; UPS

Gene ID

3145

UniProt

P08397

Accession Number mRNA

NM_000190

Chromosomal Location

11q23.3

Expression System

HEK293T

Tag

C-Myc/DDK

Related Pathways

Metabolic pathways, Porphyrin and chlorophyll metabolism

Field of Research

Metabolic pathways, Porphyrin and chlorophyll metabolism

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

Function

Druggable Genome

Molecular Weight

39.1 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.