TOMM40L
Translocase of Outer Mitochondrial Membrane 40 Like
Gene Information Card
| Symbol | TOMM40L |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 40 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 84134 ncbi.nlm.nih.gov/gene/84134 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q96A46 |
| OMIM ID | 616247 |
| HGNC ID | 27582 |
| Aliases | TOMM40B, MGC12972 |
Description
TOMM40L encodes a protein that is similar to TOMM40, a component of the translocase of the outer mitochondrial membrane complex. The encoded protein is involved in the import of precursor proteins into mitochondria. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial outer membrane translocase complex | • protein import into mitochondrial matrix |
| • mitochondrion |
Pathways
• Mitochondrial protein import
Protein Summary
TOMM40L is a 40 kDa protein localized to the mitochondrial outer membrane. It functions as part of the TOM complex, facilitating the translocation of nuclear-encoded mitochondrial proteins. The protein contains a beta-barrel domain typical of porins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMM40L Knockout HEK293 Cell Line | EDJ-KQ9992 | Human | 84134 | Details Get a Quote |
| TOMM40L Knockout A-549 Cell Line | EDJ-KQ36941 | Human | 84134 | Details Get a Quote |
| TOMM40L Knockout HCT 116 Cell Line | EDJ-KQ36942 | Human | 84134 | Details Get a Quote |
| TOMM40L Knockout HeLa Cell Line | EDJ-KQ36943 | Human | 84134 | Details Get a Quote |
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