DISEASES

Disease-gene associations mined from literature

Literature associating MRPL58 and 46,XY sex reversal 2

MRPL58 [ENSP00000301585]

Peptidyl-tRNA hydrolase ICT1, mitochondrial; Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes.

Synonyms:  MRPL58,  MRPL58p,  hMRPL58,  J3KS15,  J3QRF8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM