MT-RNR1 Chromosome MT

Mitochondrially encoded 12S rRNA
3 variants 2 Drug Response 1 Health Risk

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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
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
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