IMMT Gene - Inner Membrane Mitochondrial Protein
Comprehensive genomic and proteomic analysis of IMMT, a key component of the mitochondrial inner membrane organizing system (MINOS).
Gene Information Card
| Symbol | IMMT |
|---|---|
| Full Name | Inner Membrane Mitochondrial Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 10989 ncbi.nlm.nih.gov/gene/10989 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q16891 |
| OMIM ID | 600378 |
| HGNC ID | 6047 |
| Aliases | HMP, MINOS2, MIB, IMMT1 |
Description
The IMMT gene encodes the inner membrane mitochondrial protein, a core component of the mitochondrial inner membrane organizing system (MINOS, also known as Mitofilin or MICOS complex). This protein is essential for maintaining mitochondrial cristae morphology, protein import, and mitochondrial dynamics. It is located on chromosome 2p11.2 and is widely expressed in tissues with high metabolic demand.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy | Disruption of cristae structure due to IMMT loss-of-function impairs oxidative phosphorylation | PMID: 25298396 |
| Hereditary spastic paraplegia | IMMT mutations linked to axonal degeneration via mitochondrial dysfunction | PMID: 31006511 |
| Cancer (multiple types) | Altered IMMT expression affects mitochondrial metabolism and apoptosis in tumors | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 78.5 | High |
| Skeletal muscle | 62.3 | High |
| Liver | 45.1 | Medium |
| Brain | 38.7 | Medium |
| Kidney | 35.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 42.1 | Cervical cancer cell line |
| HEK293 | 39.8 | Embryonic kidney cells |
| HepG2 | 51.3 | Hepatocellular carcinoma |
| SH-SY5Y | 33.6 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.1010G>A (p.Arg337His) | Missense | 0.02% | Impaired MINOS complex assembly |
| c.1445_1446del (p.Glu482fs) | Frameshift | <0.01% | Loss of function, unstable mRNA |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent IMMT protein, disrupting cristae structure and mitochondrial function.
Gain of Function (GOF)
No gain-of-function mutations reported for IMMT.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg337His) may act as dominant-negative by interfering with MINOS complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Mitochondrial cristae organization |
| • Protein-containing complex assembly | • Mitochondrial protein import |
| • ATP synthesis coupled electron transport |
Pathways
• Mitochondrial inner membrane organizing system (MINOS)
• Oxidative phosphorylation
• Mitochondrial protein import
Protein Summary
IMMT (Mitofilin) is a 758-amino acid protein localized to the mitochondrial inner membrane. It forms the core of the MINOS complex, which connects the inner boundary membrane to cristae junctions. The protein contains a transmembrane domain and coiled-coil regions that mediate interactions with other MICOS subunits. IMMT is critical for maintaining mitochondrial ultrastructure, respiratory chain supercomplex formation, and cellular energy metabolism.
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