DISEASES

Disease-gene associations mined from literature

Literature associating C12orf65 and Charcot-Marie-Tooth disease type 6

C12orf65 [ENSP00000253233]

Probable peptide chain release factor C12orf65, mitochondrial; May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).

Synonyms:  C12orf65,  C12ORF65,  F5GWJ6,  F5H4X5,  F5H5V8 ...

Linkouts:  STRING  Pharos  UniProt