ZMPSTE24 zinc metallopeptidase STE24
Gene ID: 10269, updated on 11-Apr-2024Gene type: protein coding
Also known as: HGPS; PRO1; FACE1; RSDM1; STE24; FACE-1; Ste24p
- See all available tests in GTR for this gene
- Go to complete Gene record for ZMPSTE24
- Go to Variation Viewer for ZMPSTE24 variants
Summary
This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mandibuloacral dysplasia with type B lipodystrophy | See labs |
| Restrictive dermopathy 1 | not available |
Genomic context
- Location:
- 1p34.2
- Sequence:
- Chromosome: 1; NC_000001.11 (40258236..40294180)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZMPSTE24 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- ZMPSTE24 homepage - Leiden Muscular Dystrophy pages
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