Hydroxymethylbilane Synthase

Alternative Names

  • HMBS
  • Porphobilinogen Deaminase
  • PBGD
  • Pre-Uroporphyrinogen Synthase
  • Uroporphyrinogen I Synthase
  • Uroporphyrinogen I Synthetase
Back to search Result
OMIM Number

609806

NCBI Gene ID

3145

Uniprot ID

P08397

Length

8,669 bases

No. of Exons

15

No. of isoforms

4

Protein Name

Porphobilinogen deaminase

Molecular Mass

39330 Da

Amino Acid Count

361

Genomic Location

chr11:119,084,881-119,093,549

Gene Map Locus
11q23.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000190.4:c.594G>AUnited Arab EmiratesNC_000011.10:g.119091508G>ANG_008093.1:g.11632G>A; NM_000190.4:c.594G>A; NP_000181.2:p.Trp198Ter
© CAGS 2024. All rights reserved.