MT-RNR1 Chromosome MT
Mitochondrially encoded 12S rRNA
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What This Gene Does
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, Jul 2025]
Gene Info
Gene Group
Mitochondrially encoded ribosomal RNAs
Locus Type
RNA, ribosomal
Location
mitochondria
Ensembl
ENSG00000211459
Associated Conditions (8)
Mitochondrial non-syndromic sensorineural hearing loss
Aminoglycoside-induced deafness
Auditory neuropathy
gentamicin response - Toxicity
aminoglycoside antibacterials response - Toxicity
kanamycin response - Toxicity
streptomycin response - Toxicity
Gentamicin response
Key Variants
RS267606618
drug response
Mitochondrial non-syndromic sensorineural hearing loss, Aminoglycoside-induced deafness, Auditory neuropathy
Drug Response
RS28358569
Uncertain significance; drug response
Mitochondrial non-syndromic sensorineural hearing loss, Aminoglycoside-induced deafness, Gentamicin response
Drug Response
RS1556422499
Pathogenic
Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267606618 | Drug Response | drug response | Mitochondrial non-syndromic sensorineural hearing loss, Aminoglycoside-induced deafness, Auditory neuropathy |
| RS28358569 | Drug Response | Uncertain significance; drug response | Mitochondrial non-syndromic sensorineural hearing loss, Aminoglycoside-induced deafness, Gentamicin response |
| RS1556422499 | Health Risk | Pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |