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
- Danio rerio
- hmbsb
- Drosophila melanogaster
- l(3)02640
- 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