DISEASES

Disease-gene associations mined from literature

Literature associating CKMT1B and cerebral creatine deficiency syndrome

CKMT1B [ENSP00000300283]

Creatine kinase, mitochondrial 1B; 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:  CKMT1B,  CKMT1A,  CKMT1Bp,  hCKMT1B,  C9J6W7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM