MT-RNR1

The protein acts as an inhibitor of the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5'-AMP-activated protein kinase (AMPK).

[3][2] Pathogenic mutations in the MT-RNR1 gene have been found to cause late-onset Mitochondrial nonsyndromic hearing loss and deafness with predisposed aminoglycoside ototoxicities.

[7] Nonsyndromic deafness is characterized by a partial or total sensorineural hearing loss (SNHL) of variable onset and severity that is not associated with other signs and symptoms.

Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, including skeletal muscles, the heart, the brain, or the liver.

Common clinical manifestations include myopathy, hypotonia, and encephalomyopathy, lactic acidosis, and hypertrophic cardiomyopathy.

Location of the MT-RNR1 gene on the H strand of the human mitochondrial genome. MT-RNR1 , or RRNS , is one of the two mitochondrial ribosomal RNA genes (blue boxes).