POLRMT RNA polymerase mitochondrial
Gene ID: 5442, updated on 11-Apr-2024Gene type: protein coding
Also known as: APOLMT; MTRNAP; MTRPOL; COXPD55; h-mtRPOL
- See all available tests in GTR for this gene
- Go to complete Gene record for POLRMT
- Go to Variation Viewer for POLRMT variants
Summary
This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 55 | not available |
Genomic context
- Location:
- 19p13.3
- Sequence:
- Chromosome: 19; NC_000019.10 (617221..633537, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLRMT 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
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