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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CKMT1B
creatine kinase, mitochondrial 1B
Chromosome 15 · 15q15.3
NCBI Gene: 1159Ensembl: ENSG00000223572.11HGNC: HGNC:1995UniProt: P12532
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
neurodegenerative diseaseParkinson diseaseAlzheimer diseasemultiple sclerosis
✦AI Summary

CKMT1B (creatine kinase, mitochondrial 1B) is a mitochondrial energy metabolism enzyme that catalyzes reversible phosphoryl transfer from ATP to creatine, supporting cellular energy homeostasis 1. While CKMT1B is highly expressed in mitochondria-dependent cells, it appears functionally distinct from CKB in regulating mitochondrial ATP production through the permeability transition pore pathway 1. In colorectal cancer, CKMT1B functions as a tumor suppressor gene, with reduced expression enhancing cancer cell proliferation, migration, and invasion while suppressing apoptosis through the AKT/mTOR/STAT3 pathway 2. Similarly, low CKMT1B expression predicts worse prognosis in lower-grade glioma and associates with reduced immune infiltration 3. Genetically, loss-of-function variants in CKMT1B correlate with reduced human lifespan primarily through cancer-related pathways 4. Beyond oncology, CKMT1B plays essential roles in male fertility, with its Drosophila homolog AK-3 required for axonemal microtubule assembly during spermiogenesis, a function conserved in humans 5. CKMT1B expression also shows sex-dimorphic associations with body mass index and metabolic function 6. In CNS infections, downregulated CKMT1B in cerebrospinal fluid associates with varicella zoster meningitis pathogenesis 7. Collectively, CKMT1B represents a multifunctional regulator of mitochondrial energy metabolism with implications across cancer, neurological disease, metabolism, and reproductive biology.

Sources cited
1
CKMT1B is highly expressed in mitochondria-dependent cells and involved in ATP production, though functionally distinct from CKB in regulating the mitochondrial permeability transition pore
PMID: 38896801
2
CKMT1B is significantly underexpressed in colorectal cancer and functions as a tumor suppressor, regulating cancer cell proliferation, migration, invasion, and apoptosis through the AKT/mTOR/STAT3 pathway
PMID: 40159313
3
Low CKMT1B expression predicts worse prognosis in lower-grade glioma and correlates with immune infiltration patterns
PMID: 33465115
4
Loss-of-function variants in CKMT1B associate with reduced human lifespan, primarily through cancer-related pathways
PMID: 40021682
5
CKMT1B is functionally conserved with Drosophila AK-3 and essential for male spermiogenesis, particularly axonemal microtubule assembly
PMID: 39903807
6
CKMT1B shows sex-dimorphic associations with body mass index and is involved in metabolic regulation related to thermogenesis and adipose tissue function
PMID: 37101650
7
CKMT1B is downregulated in cerebrospinal fluid during varicella zoster meningitis, associated with impaired nerve function and energy metabolism
PMID: 37904697
8
CKMT1B is identified as a differentially expressed gene affecting liver cancer immunotherapy response
PMID: 36860864
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Parkinson diseaseOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.31Weak
multiple sclerosisOpen Targets
0.31Weak
neuroinflammatory disorderOpen Targets
0.24Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
colitisOpen Targets
0.06Suggestive
obesityOpen Targets
0.05Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Classical progressive supranuclear palsyOpen Targets
0.03Suggestive
progressive supranuclear palsyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CATSPER2Protein interaction95%GAMTProtein interaction95%STRCProtein interaction94%GATMProtein interaction93%ASB9Protein interaction93%SLC6A8Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
4%
Lung
1%
Ovary
1%
Liver
1%
Heart
0%
Gene Interaction Network
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CKMT1BCATSPER2GAMTSTRCGATMASB9SLC6A8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P12532
View on AlphaFold ↗
RankingsWhere CKMT1B stands among ~20K protein-coding genes
  • #6,704of 20,598
    Most Researched70
Genes detectedCKMT1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CKB Promotes Mitochondrial ATP Production by Suppressing Permeability Transition Pore.
PMID: 38896801
Adv Sci (Weinh) · 2024
1.00
2
Research into the characteristic molecules significantly affecting liver cancer immunotherapy.
PMID: 36860864
Front Immunol · 2023
0.90
3
Rare genetic associations with human lifespan in UK Biobank are enriched for oncogenic genes.
PMID: 40021682
Nat Commun · 2025
0.80
4
CKMT1B regulates the proliferation, migration, invasion, and apoptosis of colorectal cancer cells through the AKT/mTOR/STAT3 pathway.
PMID: 40159313
Mol Genet Genomics · 2025
0.70
5
Drosophila AK-3, a homolog of human CKMT1B, is essential for spermiogenesis.
PMID: 39903807
Reproduction · 2025
0.60