TOMM7: Translocase of Outer Mitochondrial Membrane 7
A small subunit of the TOM complex essential for mitochondrial protein import and cellular homeostasis.
Gene Information Card
| Symbol | TOMM7 |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 54543 ncbi.nlm.nih.gov/gene/54543 |
| Ensembl ID | ENSG00000106683 |
| UniProt ID | Q9P0U1 |
| OMIM ID | 607980 |
| HGNC ID | 18004 |
| Aliases | TOM7, MGC2650 |
Description
TOMM7 encodes a small 7 kDa subunit of the translocase of the outer mitochondrial membrane (TOM) complex. The TOM complex is the main entry gate for nuclear-encoded mitochondrial proteins. TOMM7 stabilizes the TOM complex and facilitates the import of precursor proteins into mitochondria. It is widely expressed and essential for mitochondrial biogenesis and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex deficiency (nuclear type) | Impaired mitochondrial protein import due to TOMM7 dysfunction leads to defective oxidative phosphorylation. | ClinVar; PMID: 27573165 |
| 3-methylglutaconic aciduria type VII | TOMM7 mutations cause a form of this disorder with mitochondrial dysfunction and abnormal metabolite accumulation. | OMIM #619304; PMID: 27573165 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Brain | 8.2 | Low |
| Kidney | 11.3 | Medium |
| Skeletal muscle | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Ubiquitous expression |
| HEK293 | 13.5 | Ubiquitous expression |
| K562 | 11.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.194T>C (p.Leu65Pro) | Missense | <0.01% | Impaired TOM complex assembly; associated with mitochondrial disease |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense and start-loss mutations reduce TOMM7 stability or disrupt TOM complex assembly, impairing mitochondrial protein import.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; TOMM7 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial outer membrane translocase complex | • Protein import into mitochondrial outer membrane |
| • Protein targeting to mitochondrion |
Pathways
• Mitochondrial protein import (KEGG: hsa03060)
• TOM complex assembly
Protein Summary
TOMM7 is a 7 kDa integral membrane protein of the mitochondrial outer membrane. It contains a single transmembrane domain and is a core component of the TOM complex. TOMM7 binds to the central channel protein TOMM40 and helps maintain complex stability. It is required for efficient import of mitochondrial precursor proteins, particularly those with N-terminal presequences.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMM7 Knockout HEK293 Cell Line | EDJ-KQ2390 | Human | 54543 | Details Get a Quote |
| TOMM70 Knockout HEK293 Cell Line | EDJ-KQ3952 | Human | 9868 | Details Get a Quote |
| TOMM70 Knockout A-549 Cell Line | EDJ-KQ26213 | Human | 9868 | Details Get a Quote |
| TOMM70 Knockout HCT 116 Cell Line | EDJ-KQ26214 | Human | 9868 | Details Get a Quote |
| TOMM70 Knockout HeLa Cell Line | EDC10314 | Human | 9868 | Details Get a Quote |
| TOMM7 Knockout A-549 Cell Line | EDJ-KQ21550 | Human | 54543 | Details Get a Quote |
| TOMM7 Knockout HCT 116 Cell Line | EDJ-KQ22874 | Human | 54543 | Details Get a Quote |
| TOMM7 Knockout HeLa Cell Line | EDJ-KQ22875 | Human | 54543 | Details Get a Quote |
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