HMBS hydroxymethylbilane synthase
Gene ID: 3145, updated on 3-Apr-2024Gene type: protein coding
Also known as: UPS; PBGD; PORC; ENCEP; PBG-D; LENCEP
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- Go to complete Gene record for HMBS
- Go to Variation Viewer for HMBS variants
Summary
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]
Associated conditions
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| Description | Tests |
|---|---|
| Acute intermittent porphyria | See labs |
| Encephalopathy, porphyria-related | not available |
| Leukoencephalopathy, porphyria-related | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-01-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 11q23.3
- Sequence:
- Chromosome: 11; NC_000011.10 (119084881..119093549)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HMBS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HMBS database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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