DISEASES

Disease-gene associations mined from literature

Literature associating MRM1 and 3-Methylcrotonyl-CoA carboxylase 1 deficiency

MRM1 [ENSP00000481559]

rRNA methyltransferase 1, mitochondrial; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.

Synonyms:  MRM1,  MRM1p,  hMRM1,  A0A087WZC1,  Q6IN84 ...

Linkouts:  STRING  Pharos  UniProt