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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TIMM21
translocase of inner mitochondrial membrane 21
Chromosome 18 Β· 18q22.3
NCBI Gene: 29090Ensembl: ENSG00000075336.13HGNC: HGNC:25010UniProt: A8K1K8
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
TIM23 mitochondrial import inner membrane translocase complexprotein bindingprotein import into mitochondrial matrixmitochondrial respiratory chain complex I assemblyHallux rigidusacquired thrombocytopeniaVitiligospondylolisthesis
✦AI Summary

TIMM21 (translocase of inner mitochondrial membrane 21) is a dual-function mitochondrial protein that operates at the intersection of protein import and respiratory chain assembly. As a component of the TIM23 presequence translocase complex, TIMM21 facilitates translocation of transit peptide-containing proteins across the mitochondrial inner membrane 1. Beyond its canonical import role, TIMM21 functions as a core constituent of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, where it is required for assembly of respiratory chain complexes I and IV 2. Notably, TIMM21 is dispensable for general protein import but specifically required for integration of presequence-containing subunits into early respiratory chain assembly intermediates, establishing a critical link between mitochondrial protein translocation and respiratory chain biogenesis 2. This function directly impacts mitochondrial translation regulation in response to assembly state of respiratory complexes. Clinically, genetic variation near TIMM21 (rs75769176) has been associated with tuberculosis severity (p = 0.04) in a genome-to-genome study, suggesting its involvement in host-pathogen interactions and disease susceptibility, though the mechanistic basis remains unclear 3.

Sources cited
1
TIM21 is present in MITRAC complexes, is required for integration of presequence-containing subunits into respiratory-chain intermediates, and is dispensable for general protein import but links TIM23 transport machinery to respiratory-chain assembly
PMID: 23260140
2
TIMM21 is a constituent of the human TIM23 presequence translocase complex and participates in dynamics of TIM21 during respiratory chain biogenesis
PMID: 30598479
3
A human intergenic variant near TIMM21 (rs75769176) is associated with tuberculosis severity and links to mycobacterial genetic variation
PMID: 40457403
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Hallux rigidusOpen Targets
0.24Weak
acquired thrombocytopeniaOpen Targets
0.22Weak
spondylolisthesisOpen Targets
0.22Weak
VitiligoOpen Targets
0.22Weak
sensory perception of smellOpen Targets
0.22Weak
hyperaldosteronismOpen Targets
0.21Weak
bilirubin metabolism diseaseOpen Targets
0.21Weak
macular degenerationOpen Targets
0.21Weak
cardiac arrestOpen Targets
0.21Weak
multinodular goiterOpen Targets
0.20Weak
stricture or kinking of ureterOpen Targets
0.20Weak
adrenal gland hyperfunctionOpen Targets
0.20Weak
tympanic membrane diseaseOpen Targets
0.19Weak
dyshidrosisOpen Targets
0.19Weak
HypercholesterolemiaOpen Targets
0.18Weak
smoking initiationOpen Targets
0.18Weak
actinic keratosisOpen Targets
0.08Suggestive
dislocationOpen Targets
0.08Suggestive
eye injuryOpen Targets
0.07Suggestive
body weight gainOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TIMM50Protein interaction100%TIMM10Protein interaction97%TOMM22Protein interaction96%PAM16Protein interaction95%TIMM23BProtein interaction93%ROMO1Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Liver
33%
Brain
31%
Ovary
23%
Bone Marrow
23%
Lung
15%
Gene Interaction Network
Click a node to explore
TIMM21TIMM50TIMM10TOMM22PAM16TIMM23BROMO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BVV7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.39LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.02 [0.76–1.39]
RankingsWhere TIMM21 stands among ~20K protein-coding genes
  • #9,534of 20,598
    Most Researched45
  • #14,413of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedTIMM21
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Genome-to-genome analysis reveals associations between human and mycobacterial genetic variation in tuberculosis patients from Tanzania.
PMID: 40457403
BMC Med Genomics Β· 2025
1.00
2
Unique long non-coding RNA expression signature in ETV6/RUNX1-driven B-cell precursor acute lymphoblastic leukemia.
PMID: 27650541
Oncotarget Β· 2016
0.75
3
ROMO1 is a constituent of the human presequence translocase required for YME1L protease import.
PMID: 30598479
J Cell Biol Β· 2019
0.50
4
MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
PMID: 23260140
Cell Β· 2012
0.25