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.
Symbol
HMBS
Species
Human
Protein ID
NP_000181
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/3145
Uniprot URL
https://www.uniprot.org/uniprot/P08397
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_000190
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_000181
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