MT-RNR1 mitochondrially encoded 12S RNA
Gene ID: 4549, updated on 13-Jun-2024Gene type: rRNA
Also known as: MTRNR1; RNR1
- See all available tests in GTR for this gene
- Go to complete Gene record for MT-RNR1
- Go to Variation Viewer for MT-RNR1 variants
Summary
Enables DNA binding activity and DNA-binding transcription factor binding activity. Involved in several processes, including osteoblast proliferation; regulation of carbohydrate utilization; and regulation of phosphate metabolic process. Located in extracellular space; mitochondrion; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mitochondrial non-syndromic sensorineural hearing loss MedGen: C3151897OMIM: 500008GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial, Genetic Hearing Loss Overview | See labs |
Genomic context
- Sequence:
- Chromosome: MT; NC_012920.1 (648..1601)
- Total number of exons:
- 0
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MT-RNR1 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
- Variation ViewerRelated Variants
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