Literature associating CKMT2 and Kearns-Sayre syndrome
Creatine kinase, mitochondrial 2 (sarcomeric); Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa; Belongs to the ATP:guanido phosphotransferase family.
Synonyms: CKMT2, CKMT2p, hCKMT2, A0A024RAK5, B3KVA7 ...