Literature associating PTCD1 and French Canadian Leigh disease
PTCD1 [ENSP00000292478]
Pentatricopeptide repeat-containing protein 1, mitochondrial; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria- encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs; Belongs to the PTCD1 family.
Synonyms: PTCD1, PTCD1p, hPTCD1, A4D273, C9JGL8 ...