POMP proteasome maturation protein
Gene ID: 51371, updated on 5-Mar-2024Gene type: protein coding
Also known as: UMP1; PRAAS2; HSPC014; C13orf12; PNAS-110
- See all available tests in GTR for this gene
- Go to complete Gene record for POMP
- Go to Variation Viewer for POMP variants
Summary
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study. GeneReviews: Not available | |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | See labs |
| Proteasome-associated autoinflammatory syndrome 2 | See labs |
Genomic context
- Location:
- 13q12.3
- Sequence:
- Chromosome: 13; NC_000013.11 (28659130..28678959)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POMP 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
- POMP database
- 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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