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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TIMM50
translocase of inner mitochondrial membrane 50
Chromosome 19 Β· 19q13.2
NCBI Gene: 92609Ensembl: ENSG00000105197.12HGNC: HGNC:23656UniProt: Q3ZCQ8
218PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
release of cytochrome c from mitochondriaphosphoprotein phosphatase activityprotein serine/threonine phosphatase activityprotein tyrosine phosphatase activity3-methylglutaconic aciduria type 9neurodegenerative diseaseMitochondrial encephalopathygenetic disorder
✦AI Summary

TIMM50 is an essential core subunit of the TIM23 complex, the mitochondrial inner membrane translocase responsible for importing cytosolic proteins containing mitochondrial targeting presequences into the mitochondrial matrix and inner membrane 1. The protein facilitates the import of approximately 60% of the mitochondrial proteome, though remarkably, TIMM50 deficiency has minimal impact on steady-state levels of most putative substrates, suggesting functional redundancy at low protein levels 2. TIMM50 appears particularly important for proteins imported via the TIM23SORT lateral insertion pathway, including components of oxidative phosphorylation complexes and mitochondrial ribosomes 3. Pathogenic TIMM50 mutations cause severe mitochondrial disease characterized by reduced TIM23 complex levels, decreased mitochondrial membrane potential, impaired protein import, and combined oxidative phosphorylation defects 13. Clinically, TIMM50 deficiency manifests as 3-methylglutaconic aciduria type 9 with severe neurological phenotypes including encephalopathy and epilepsy, likely due to reduced ATP levels, defective mitochondrial trafficking in neurons, and altered potassium channel expression affecting neuronal excitability 2. The protein may also have oncogenic properties in certain cancers, promoting tumor progression through ERK signaling pathways 4.

Sources cited
1
TIMM50 is essential component of TIM23 complex and mutations cause mitochondrial disease with encephalopathy
PMID: 30190335
2
TIMM50 facilitates import of ~60% of mitochondrial proteome and deficiency causes neurological phenotypes
PMID: 39680434
3
TIMM50 variants reduce TIM23 complex activity and particularly affect TIM23SORT pathway substrates
PMID: 38828998
4
TIMM50 promotes tumor progression via ERK signaling in non-small cell lung cancer
PMID: 30604908
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
3-methylglutaconic aciduria type 9Open Targets
0.78Strong
neurodegenerative diseaseOpen Targets
0.52Moderate
Mitochondrial encephalopathyOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.41Moderate
Epileptic encephalopathyOpen Targets
0.37Weak
mitochondrial diseaseOpen Targets
0.34Weak
cardiac hypertrophyOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
hyperostosis corticalis generalisataOpen Targets
0.03Suggestive
fever of unknown originOpen Targets
0.03Suggestive
dilated cardiomyopathyOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
heart failureOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
3-methylglutaconic aciduria 9UniProt
Pathogenic Variants6
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)Likely pathogenic
3-methylglutaconic aciduria type 9|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 149
NM_001001563.5(TIMM50):c.328C>T (p.Gln110Ter)Likely pathogenic
3-methylglutaconic aciduria type 9
β˜…β˜†β˜†β˜†2022β†’ Residue 110
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)Pathogenic
3-methylglutaconic aciduria type 9
β˜…β˜†β˜†β˜†2017β†’ Residue 222
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser)Pathogenic
Inborn genetic diseases|3-methylglutaconic aciduria type 9
β˜…β˜†β˜†β˜†2014β†’ Residue 269
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala)Pathogenic
Mitochondrial encephalopathy|3-methylglutaconic aciduria type 9
β˜…β˜†β˜†β˜†β†’ Residue 87
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter)Pathogenic
Mitochondrial encephalopathy|3-methylglutaconic aciduria type 9
β˜…β˜†β˜†β˜†β†’ Residue 9
View on ClinVar β†—
Related Genes
SLC25A6Protein interaction100%HSPA9Protein interaction100%TOMM70Protein interaction100%TOMM40Protein interaction100%SAMM50Protein interaction100%TIMM10Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
87%
Liver
81%
Ovary
62%
Bone Marrow
62%
Lung
55%
Gene Interaction Network
Click a node to explore
TIMM50SLC25A6HSPA9TOMM70TOMM40SAMM50TIMM10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3ZCQ8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.52–0.91]
RankingsWhere TIMM50 stands among ~20K protein-coding genes
  • #1,903of 20,598
    Most Researched218 Β· top 10%
  • #3,304of 5,498
    Most Pathogenic Variants6
  • #8,335of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedTIMM50
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Heart failure in patients is associated with downregulation of mitochondrial quality control genes.
PMID: 37403271
Eur J Clin Invest Β· 2023
1.00
2
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50.
PMID: 39680434
Elife Β· 2024
0.90
3
Mitochondrial Protein Homeostasis and Cardiomyopathy.
PMID: 35328774
Int J Mol Sci Β· 2022
0.80
4
Mutations in
PMID: 30190335
EMBO Mol Med Β· 2018
0.70
5
Lactate-related gene signatures predict prognosis and immune profiles in esophageal squamous cell carcinoma.
PMID: 40617965
Sci Rep Β· 2025
0.60