DISEASES

Disease-gene associations mined from literature

Literature associating CKMT2 and Kearns-Sayre syndrome

CKMT2 [ENSP00000404203]

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 ...

Linkouts:  STRING  Pharos  UniProt