LongevityMap Gene

Gene details

HGNC symbol
HMBS 
Aliases
UPS; PBGD; PORC; PBG-D 
Common name
hydroxymethylbilane synthase 
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. 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]
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
OMIM
609806
Ensembl
ENSG00000256269
UniProt/Swiss-Prot
HEM3_HUMAN
Entrez Gene
3145
UniGene
82609
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
hmbsa
Mus musculus
Hmbs
Rattus norvegicus
Hmbs
Saccharomyces cerevisiae
HEM3
Schizosaccharomyces pombe
hem3

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Danish
Study Design
592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions
The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Indentifier
rs640603
Reference