TOMM6: Translocase of Outer Mitochondrial Membrane 6
A key component of the mitochondrial protein import machinery
Gene Information Card
| Symbol | TOMM6 |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 100128731 ncbi.nlm.nih.gov/gene/100128731 |
| Ensembl ID | ENSG00000214717 |
| UniProt ID | Q96BZ8 |
| OMIM ID | 618667 |
| HGNC ID | HGNC:28379 |
| Aliases | TOM6, TOM6_HUMAN, HSPC065 |
Description
TOMM6 encodes a small subunit of the translocase of the outer mitochondrial membrane (TOM) complex, which is essential for the import of nuclear-encoded mitochondrial proteins. The TOM complex is the main entry gate for precursor proteins into mitochondria. TOMM6 is a 6 kDa protein that stabilizes the TOM complex and is required for its assembly and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Defective mitochondrial protein import due to TOM complex dysfunction | Limited; inferred from functional studies |
| Neurodegenerative disorders | Impaired mitochondrial import leads to cellular energy deficit | Hypothetical based on TOM complex role |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 8.5 | Medium |
| Liver | 6.2 | Low |
| Brain | 5.1 | Low |
| Kidney | 7.3 | Low |
| Skeletal muscle | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.1 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
| c.55C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein likely impair TOM complex assembly and mitochondrial import.
Gain of Function (GOF)
No evidence for gain-of-function mutations in TOMM6.
Dominant Negative (DN)
Not reported; TOMM6 is a small subunit and dominant-negative effects are unlikely.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • mitochondrial outer membrane (GO:0005741) |
| • protein transporter activity (GO:0008565) | • intracellular protein transport (GO:0006886) |
| • protein transport (GO:0015031) |
Pathways
• Mitochondrial protein import (KEGG: hsa03060)
• TOM complex assembly
Protein Summary
TOMM6 is a 6 kDa protein (56 amino acids) that localizes to the mitochondrial outer membrane. It is a component of the TOM complex, where it interacts with TOMM40 and TOMM22 to facilitate the translocation of precursor proteins. The protein contains a single transmembrane domain and a short C-terminal domain exposed to the intermembrane space.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMM6 Knockout HEK293 Cell Line | EDJ-KQ11996 | Human | 100188893 | Details Get a Quote |
| TOMM6 Knockout A-549 Cell Line | EDJ-KQ40573 | Human | 100188893 | Details Get a Quote |
| TOMM6 Knockout HCT 116 Cell Line | EDJ-KQ40574 | Human | 100188893 | Details Get a Quote |
| TOMM6 Knockout HeLa Cell Line | EDJ-KQ40575 | Human | 100188893 | Details Get a Quote |
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