TIMM23B
Translocase of Inner Mitochondrial Membrane 23B
Gene Information Card
| Symbol | TIMM23B |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 23B |
| Gene Type | Protein coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000203879 |
| UniProt ID | Q5SRH9 |
| OMIM ID | 616164 |
| HGNC ID | 37233 |
| Aliases | TIMM23, TIM23, TIM23B |
Description
TIMM23B is a protein-coding gene that encodes a component of the TIM23 complex, which mediates the translocation of nuclear-encoded proteins across the inner mitochondrial membrane. The protein is essential for mitochondrial protein import and mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Impaired protein import due to TIMM23B dysfunction | Limited; inferred from functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Heart | 3.8 | Low |
| Brain | 2.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate |
| HeLa | 3.5 | Moderate |
| K562 | 2.0 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Protein transmembrane transporter activity |
| • Protein import into mitochondrial inner membrane |
Pathways
• Mitochondrial protein import (TIM23 complex)
Protein Summary
TIMM23B is a 23 kDa subunit of the TIM23 translocase complex located in the inner mitochondrial membrane. It forms a channel that facilitates the import of precursor proteins from the intermembrane space into the mitochondrial matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM23B Knockout HEK293 Cell Line | EDJ-KQ15735 | Human | 100652748 | Details Get a Quote |
| TIMM23B Knockout HeLa Cell Line | EDJ-KQ45425 | Human | 100652748 | Details Get a Quote |
| TIMM23B Knockout A-549 Cell Line | EDJ-KQ46655 | Human | 100652748 | Details Get a Quote |
| TIMM23B Knockout HCT 116 Cell Line | EDJ-KQ46656 | Human | 100652748 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
