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7 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TAMM41
TAM41 mitochondrial translocator assembly and maintenance homolog
Chromosome 3 Β· 3p25.2
NCBI Gene: 132001Ensembl: ENSG00000144559.12HGNC: HGNC:25187UniProt: Q96BW9
49PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrioncardiolipin biosynthetic processmitochondrial matrixcombined oxidative phosphorylation deficiency 56Bilateral ptosisDysphagiaNeonatal hypotonia
✦AI Summary

TAMM41 is a mitochondrial inner membrane protein that catalyzes the conversion of phosphatidic acid to CDP-diacylglycerol, a critical intermediate in cardiolipin, phosphatidylglycerol, and phosphatidylinositol biosynthesis 1. The protein maintains mitochondrial function and regulates PINK1-PARK2-dependent mitophagy 2. Clinically, TAMM41 dysfunction is associated with multiple disease states. Reduced TAMM41 expression correlates with Alzheimer's disease risk, with gene-based association studies showing significant evidence for mitochondrial involvement in neurodegeneration 3. TAMM41 variants cause combined oxidative phosphorylation deficiency 56 and mitochondrial myopathy, presenting with neonatal hypotonia, developmental delay, and progressive weakness with decreased respiratory enzyme staining 4. In cardiac development, TAMM41 deficiency leads to congenital heart valve abnormalities through impaired mitophagy, with heterozygous pathogenic variants identified in atrioventricular septal defect patients 2. Recent mechanistic studies reveal TAMM41's role in antidepressant responses: ketamine-induced antidepressant effects require TAMM41-mediated transfer of sigma-1 receptor from astrocytes to neurons via cardiolipin-exosome pathway 5, and genetic TAMM41 overexpression produces antidepressant-like effects through pacsin1 regulation 1. TAMM41 methylation changes are associated with diabetic kidney disease progression 6.

Sources cited
1
TAMM41 catalyzes phosphatidic acid to CDP-diacylglycerol conversion and maintains mitochondrial function; genetic overexpression produces antidepressant effects via pacsin1 regulation
PMID: 38750395
2
TAMM41 gene-based association with Alzheimer's disease; lower TAMM41 expression in AD cases compared to controls
PMID: 34152079
3
TAMM41 pathogenic variants cause mitochondrial myopathy with neonatal hypotonia, developmental delay, and decreased COX/SDH staining
PMID: 41436359
4
TAMM41 required for heart valve development through regulation of PINK1-PARK2-dependent mitophagy; heterozygous variants identified in atrioventricular septal defect patients
PMID: 30824836
5
Ketamine's antidepressant effects require TAMM41 activation to facilitate astrocytic sigma-1 receptor transfer to neurons via cardiolipin-exosome axis
PMID: 40957903
6
TAMM41 DNA methylation changes (largest Δβ = 0.2) associated with diabetic kidney disease in Type 1 diabetes
PMID: 25850930
Disease Associationsβ“˜21
combined oxidative phosphorylation deficiency 56Open Targets
0.61Moderate
Bilateral ptosisOpen Targets
0.47Moderate
Abnormal facial shapeOpen Targets
0.42Moderate
Ankle flexion contractureOpen Targets
0.42Moderate
DysphagiaOpen Targets
0.42Moderate
gastroesophageal reflux diseaseOpen Targets
0.42Moderate
Neonatal hypotoniaOpen Targets
0.42Moderate
Proximal muscle weaknessOpen Targets
0.42Moderate
respiratory failureOpen Targets
0.42Moderate
Moderate albuminuriaOpen Targets
0.35Weak
bronchus cancerOpen Targets
0.31Weak
asthmaOpen Targets
0.26Weak
joint diseaseOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.23Weak
Abnormality of the cardiovascular systemOpen Targets
0.18Weak
combined oxidative phosphorylation deficiencyOpen Targets
0.15Weak
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.05Suggestive
temporomandibular joint disorderOpen Targets
0.04Suggestive
congenital heart diseaseOpen Targets
0.03Suggestive
Combined oxidative phosphorylation deficiency 56UniProt
Pathogenic Variants5
NM_001284401.2(TAMM41):c.709-3C>ALikely pathogenic
Combined oxidative phosphorylation deficiency 56
β˜…β˜†β˜†β˜†
NM_001284401.2(TAMM41):c.410C>T (p.Pro137Leu)Pathogenic
Combined oxidative phosphorylation deficiency 56
β˜†β˜†β˜†β˜†2022β†’ Residue 137
NM_001284401.2(TAMM41):c.709-2A>GPathogenic
Combined oxidative phosphorylation deficiency 56|Acute myeloid leukemia
β˜†β˜†β˜†β˜†2022
NM_001284401.2(TAMM41):c.329A>G (p.Tyr110Cys)Pathogenic
Dysphagia;Bilateral ptosis;Gastroesophageal reflux;Respiratory failure|Combined oxidative phosphorylation deficiency 56
β˜†β˜†β˜†β˜†2022β†’ Residue 110
NM_001284401.2(TAMM41):c.806dup (p.Asn269fs)Pathogenic
Dysphagia;Bilateral ptosis;Gastroesophageal reflux;Respiratory failure|Combined oxidative phosphorylation deficiency 56
β˜†β˜†β˜†β˜†2022β†’ Residue 269
View on ClinVar β†—
Related Genes
PGS1Protein interaction96%CDIPTProtein interaction96%CDS2Protein interaction79%PTPMT1Protein interaction78%PRELID1Protein interaction71%CDS1Protein interaction67%
Tissue Expression6 tissues
Ovary
100%
Liver
59%
Bone Marrow
58%
Heart
56%
Lung
49%
Brain
37%
Gene Interaction Network
Click a node to explore
TAMM41PGS1CDIPTCDS2PTPMT1PRELID1CDS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96BW9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.60–1.08]
RankingsWhere TAMM41 stands among ~20K protein-coding genes
  • #9,025of 20,598
    Most Researched49
  • #3,584of 5,498
    Most Pathogenic Variants5
  • #10,966of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedTAMM41
Sources retrieved7 papers
Response timeβ€”
πŸ“„ Sources
7β–Ό
1
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
PMID: 34152079
Alzheimers Dement Β· 2022
1.00
2
Sustained antidepressant actions of ketamine involve TAMM41-mediated transfer of astrocytic sigma-1 receptor to neuron.
PMID: 40957903
Mol Psychiatry Β· 2026
0.86
3
Mitochondrial Protein TAMM41 Modulates Depressive-like Behaviors.
PMID: 38750395
Mol Neurobiol Β· 2024
0.71
4
TAMM41 is required for heart valve differentiation via regulation of PINK-PARK2 dependent mitophagy.
PMID: 30824836
Cell Death Differ Β· 2019
0.57
5
A Treg-related riskscore model may improve the prognosis evaluation of colorectal cancer.
PMID: 38342959
J Gene Med Β· 2024
0.43