TOMM20L
Translocase of Outer Mitochondrial Membrane 20 Like
Gene Information Card
| Symbol | TOMM20L |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 20 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 152534 ncbi.nlm.nih.gov/gene/152534 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N7H5 |
| OMIM ID | - |
| HGNC ID | 28198 |
| Aliases | MGC13170, TOMM20-like |
Description
TOMM20L (Translocase of Outer Mitochondrial Membrane 20 Like) is a protein-coding gene that encodes a protein similar to TOMM20, a component of the mitochondrial outer membrane translocase complex. The encoded protein is involved in the import of nuclear-encoded mitochondrial proteins. It localizes to the mitochondrial outer membrane and may function in protein translocation into mitochondria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Heart | 10.5 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | - | - | - |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data:
Gene Ontology (GO)
| • mitochondrial outer membrane translocase complex | • protein transport |
| • mitochondrion |
Pathways
• Mitochondrial protein import
Protein Summary
TOMM20L is a 145-amino acid protein with a transmembrane domain, localized to the mitochondrial outer membrane. It shares structural similarity with TOMM20 and is thought to assist in the recognition and translocation of precursor proteins into mitochondria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMM20L Knockout HEK293 Cell Line | EDJ-KQ15882 | Human | 387990 | Details Get a Quote |
| TOMM20L Knockout HeLa Cell Line | EDJ-KQ60003 | Human | 387990 | Details Get a Quote |
| TOMM20L Knockout A-549 Cell Line | EDJ-KQ68464 | Human | 387990 | Details Get a Quote |
| TOMM20L Knockout HCT 116 Cell Line | EDJ-KQ76842 | Human | 387990 | Details Get a Quote |
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