HMBS, hydroxymethylbilane synthase

HMBS, hydroxymethylbilane synthase

• 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]

• Gene Synonyms (porphobilinogen deaminase, porphyria, acute; Chester type, pre-uroporphyrinogen synthase, uroporphyrinogen I synthase, uroporphyrinogen I synthetase, PBG-D, PBGD, PORC, UPS,)
• NCBI Gene ID: 3145
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P08397
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

hydroxymethylbilane synthase interacts with:

• aminopeptidase like 1
  heterogeneous nuclear ribonucleoprotein A1
  nuclear receptor subfamily 2 group C member 2
  protein interacting with PRKCA 1
  RAN binding protein 9
  secretion associated Ras related GTPase 1A
  tumor protein p53 inducible protein 3
  uridine monophosphate synthetase
  YTH N6-methyladenosine RNA binding protein 2
  zinc finger DHHC-type palmitoyltransferase 17

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.