HMBS antibody (clone 300000000), anti-human

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.

Other Names:
Porphobilinogen deaminase, PBG-D, Hydroxymethylbilane synthase, HMBS, Pre-uroporphyrinogen synthase, HMBS, PBGD, UPS

Antigen Type:
Recombinant Protein

Gene Name: HMBS
Gene ID: 3145
NCBI Accession: NP_000181.2;NP_001019553.1;NP_001245137.1;NP_001245138.1
Primary Accession: P08397
Other Accession: BC000520
Format: Clear, colorless solution in phosphate buffered saline, pH 7.2 .