DISEASES

Disease-gene associations mined from literature

Literature associating CKM and spastic ataxia 8

CKM [ENSP00000221476]

Creatine kinase M chain; 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.

Synonyms:  CKM-001,  P06732,  CKMM,  P06732p,  hP06732 ...

Linkouts:  STRING  Pharos  UniProt  OMIM