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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PTPMT1
protein tyrosine phosphatase mitochondrial 1
Chromosome 11 · 11p11.2
NCBI Gene: 114971Ensembl: ENSG00000110536.15HGNC: HGNC:26965UniProt: Q8WUK0
71PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cardiolipin biosynthetic processregulation of intrinsic apoptotic signaling pathwaymitochondrionprotein bindingneurodegenerative diseaseNeurodevelopmental disorderhypertrophic cardiomyopathyHypercholesterolemia
✦AI Summary

PTPMT1 is a mitochondrial lipid and protein phosphatase essential for cardiolipin biosynthesis and mitochondrial function. Primary function: PTPMT1 dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG), a critical intermediate in cardiolipin synthesis 12. It also exhibits phosphatase activity toward mitochondrial proteins phosphorylated on serine/threonine residues, regulating ATP production 1. Mechanism: PTPMT1 contains a canonical protein tyrosine phosphatase domain with conserved EEYE loop critical for catalytic activity 2. It maintains mitochondrial membrane integrity and prevents intrinsic apoptosis by preserving cardiolipin homeostasis 13. Under hypoxia, HIF-2α induces PTPMT1 upregulation, which sustains glucose metabolism and cell proliferation 4. Disease relevance: Biallelic PTPMT1 variants cause autosomal recessive primary mitochondrial disease characterized by developmental delay, microcephaly, epilepsy, cerebellar atrophy, and sensorineural hearing loss 1. PTPMT1 is upregulated in small cell lung cancer 5, hepatocellular carcinoma 6, and pancreatic cancer 7, where it protects cells from ferroptosis. PTPMT1 variants have been identified in atypical diabetes cases 8, and mitochondrial dysfunction involving PTPMT1 contributes to Alzheimer's disease pathogenesis 9. Clinical significance: PTPMT1 inhibition represents a promising therapeutic strategy for cancer sensitization to ferroptosis-inducing agents, while PTPMT1 genetic screening may aid diagnosis of rare neurodevelopmental and metabolic disorders.

Sources cited
1
Primary function: PTPMT1 dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG), a critical intermediate in cardiolipin synthesis , .
PMID: 39279645
2
Primary function: PTPMT1 dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG), a critical intermediate in cardiolipin synthesis , .
PMID: 21730175
3
Under hypoxia, HIF-2α induces PTPMT1 upregulation, which sustains glucose metabolism and cell proliferation .
PMID: 26898802
4
PTPMT1 is upregulated in small cell lung cancer , hepatocellular carcinoma , and pancreatic cancer , where it protects cells from ferroptosis.
PMID: 39816544
5
PTPMT1 is upregulated in small cell lung cancer , hepatocellular carcinoma , and pancreatic cancer , where it protects cells from ferroptosis.
PMID: 40189563
6
PTPMT1 is upregulated in small cell lung cancer , hepatocellular carcinoma , and pancreatic cancer , where it protects cells from ferroptosis.
PMID: 35000852
7
PTPMT1 variants have been identified in atypical diabetes cases , and mitochondrial dysfunction involving PTPMT1 contributes to Alzheimer's disease pathogenesis .
PMID: 37104866
8
PTPMT1 variants have been identified in atypical diabetes cases , and mitochondrial dysfunction involving PTPMT1 contributes to Alzheimer's disease pathogenesis .
PMID: 39363202
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.54Moderate
Neurodevelopmental disorderOpen Targets
0.27Weak
hypertrophic cardiomyopathyOpen Targets
0.15Weak
HypercholesterolemiaOpen Targets
0.12Weak
open-angle glaucomaOpen Targets
0.11Weak
hypertensionOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
glaucomaOpen Targets
0.08Suggestive
cardiomyopathyOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
small cell lung carcinomaOpen Targets
0.06Suggestive
heart failureOpen Targets
0.06Suggestive
carpal tunnel syndromeOpen Targets
0.05Suggestive
Varicose veinsOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
deep vein thrombosisOpen Targets
0.03Suggestive
skin agingOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
peripheral arterial diseaseOpen Targets
0.03Suggestive
Neurodevelopmental disorder with ataxia and brain abnormalitiesUniProt
Pathogenic Variants1
NM_175732.3(PTPMT1):c.255G>C (p.Gln85His)Pathogenic
Neurodevelopmental disorder with ataxia and brain abnormalities
☆☆☆☆2025→ Residue 85
View on ClinVar ↗
Related Genes
TAMM41Protein interaction78%PTENProtein interaction72%SGMS1Shared pathway20%STYXL1Shared pathway20%ATG3Shared pathway11%NPTX1Shared pathway10%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
61%
Liver
60%
Lung
55%
Ovary
40%
Heart
26%
Gene Interaction Network
Click a node to explore
PTPMT1TAMM41PTENSGMS1STYXL1ATG3NPTX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WUK0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.39–1.03]
RankingsWhere PTPMT1 stands among ~20K protein-coding genes
  • #6,666of 20,598
    Most Researched71
  • #4,996of 5,498
    Most Pathogenic Variants1
  • #10,222of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedPTPMT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PTPMT1 inhibition induces apoptosis and growth arrest of human SCLC cells by disrupting mitochondrial metabolism.
PMID: 39816544
Transl Cancer Res · 2024
1.00
2
Mitochondrial dysfunction gene expression, DNA methylation, and inflammatory cytokines interaction activate Alzheimer's disease: a multi-omics Mendelian randomization study.
PMID: 39363202
J Transl Med · 2024
0.90
3
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
PMID: 39279645
Brain · 2025
0.80
4
Pharmacological targeting of the mitochondrial phosphatase PTPMT1 sensitizes hepatocellular carcinoma to ferroptosis.
PMID: 40189563
Cell Death Dis · 2025
0.70
5
The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results.
PMID: 37104866
Diabetes Care · 2023
0.60