CKM (Creatine Kinase, M-Type)
Key enzyme in muscle energy metabolism, associated with muscular dystrophies and myocardial infarction.
Gene Information Card
| Symbol | CKM |
|---|---|
| Full Name | Creatine Kinase, M-Type |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 1158 ncbi.nlm.nih.gov/gene/1158 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | P06732 |
| OMIM ID | 123310 |
| HGNC ID | 1994 |
| Aliases | CKMM, M-CK, CK-M |
Description
The CKM gene encodes the M-type (muscle) subunit of creatine kinase, a cytosolic enzyme that catalyzes the reversible transfer of a phosphate group from phosphocreatine to ADP to generate ATP. This isoform is predominantly expressed in skeletal and cardiac muscle and is essential for maintaining cellular energy homeostasis during muscle contraction. Mutations in CKM are associated with susceptibility to myocardial infarction and certain forms of muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myocardial infarction, susceptibility to | Impaired energy buffering in cardiac muscle reduces tolerance to ischemic stress | OMIM #123310, ClinVar |
| Muscular dystrophy, limb-girdle, autosomal recessive | Loss-of-function mutations disrupt ATP regeneration in skeletal muscle, leading to progressive weakness | ClinVar, NCBI Gene |
| Creatine kinase deficiency | Homozygous or compound heterozygous mutations cause complete loss of enzyme activity, resulting in myopathy | OMIM #123310 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | >1000 | High |
| Heart muscle | ~500 | High |
| Brain | <10 | Low |
| Liver | <1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myotubes (HSMM) | >1000 | High expression |
| Cardiomyocytes (AC16) | ~500 | Moderate expression |
| HeLa | <1 | Not detected |
| HEK293 | <1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.800G>A (p.Arg267Gln) | Missense | Rare | Reduced enzyme activity; associated with myocardial infarction risk |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; linked to creatine kinase deficiency |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Truncated protein; loss of function in muscular dystrophy |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish catalytic activity, leading to energy deficiency in muscle.
Gain of Function (GOF)
Not reported for CKM.
Dominant Negative (DN)
Not reported; CKM functions as a dimer, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
| • creatine kinase activity (GO:0004111) | • ATP binding (GO:0005524) |
| • creatine metabolic process (GO:0006600) | • kinase activity (GO:0016301) |
| • sarcomere organization (GO:0042383) |
Pathways
• Creatine metabolism (Reactome: R-HSA-71291)
• Muscle contraction (Reactome: R-HSA-397014)
Protein Summary
The CKM protein (UniProt P06732) is a 381-amino acid cytosolic enzyme that forms homodimers (MM-CK) in skeletal and cardiac muscle. It catalyzes the reversible phosphorylation of creatine to phosphocreatine, providing a rapid ATP buffer during high-energy demand. The protein contains an N-terminal domain involved in dimerization and a C-terminal catalytic domain. Post-translational modifications include phosphorylation at Ser-6, which modulates activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CKMT2 Knockout HEK293 Cell Line | EDJ-KQ4281 | Human | 1160 | Details Get a Quote |
| CKM Knockout HEK293 Cell Line | EDJ-KQ4284 | Human | 1158 | Details Get a Quote |
| ATPSCKMT Knockout HEK293 Cell Line | EDJ-KQ9331 | Human | 134145 | Details Get a Quote |
| CKMT1A Knockout HEK293 Cell Line | EDJ-KQ12176 | Human | 548596 | Details Get a Quote |
| ATPSCKMT Knockout A-549 Cell Line | EDJ-KQ35959 | Human | 134145 | Details Get a Quote |
| ATPSCKMT Knockout HCT 116 Cell Line | EDJ-KQ35960 | Human | 134145 | Details Get a Quote |
| ATPSCKMT Knockout HeLa Cell Line | EDJ-KQ35961 | Human | 134145 | Details Get a Quote |
| CKMT1A Knockout A-549 Cell Line | EDJ-KQ42142 | Human | 548596 | Details Get a Quote |
| CKMT1A Knockout HCT 116 Cell Line | EDJ-KQ42144 | Human | 548596 | Details Get a Quote |
| CKMT1A Knockout HeLa Cell Line | EDJ-KQ42145 | Human | 548596 | Details Get a Quote |
| CKMT1B Knockout HEK293 Cell Line | EDJ-KQ50193 | Human | 1159 | Details Get a Quote |
| CKM Knockout HeLa Cell Line | EDJ-KQ52914 | Human | 1158 | Details Get a Quote |
| CKMT1B Knockout HeLa Cell Line | EDJ-KQ52915 | Human | 1159 | Details Get a Quote |
| CKMT2 Knockout HeLa Cell Line | EDJ-KQ52916 | Human | 1160 | Details Get a Quote |
| CKM Knockout A-549 Cell Line | EDJ-KQ61381 | Human | 1158 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
