Literature associating CKMT1A and cerebral creatine deficiency syndrome
Acidic-type mitochondrial creatine kinase; 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: CKMT1A, CKMT1Ap, hCKMT1A, C9JT96, F8WDP9 ...