MIX23
Mitochondrial Import Complex 23
Gene Information Card
| Symbol | MIX23 |
|---|---|
| Full Name | Mitochondrial Import Complex 23 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 620147 |
| HGNC ID | 33784 |
| Aliases | C3orf23, MIX23 |
Description
MIX23 encodes a component of the mitochondrial import complex, involved in the translocation of proteins into the mitochondrial matrix. The protein is localized to the mitochondrial inner membrane and facilitates protein import via the TIM23 pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease | Impaired protein import leads to mitochondrial dysfunction | Inferred from functional studies (UniProt) |
| Cancer | Altered expression may affect mitochondrial metabolism | COSMIC somatic mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.4 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown (COSMIC) |
| c.45C>T | synonymous | <0.01% | No effect (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • protein import into mitochondrial matrix |
| • TIM23 mitochondrial import complex |
Pathways
• Mitochondrial protein import (TIM23 pathway)
Protein Summary
MIX23 is a 23 kDa protein component of the mitochondrial import complex, localized to the inner mitochondrial membrane. It assists in the translocation of nuclear-encoded proteins into the mitochondrial matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIX23 Knockout HEK293 Cell Line | EDJ-KQ14270 | Human | 131076 | Details Get a Quote |
| MIX23 Knockout A-549 Cell Line | EDJ-KQ44291 | Human | 131076 | Details Get a Quote |
| MIX23 Knockout HCT 116 Cell Line | EDJ-KQ44292 | Human | 131076 | Details Get a Quote |
| MIX23 Knockout HeLa Cell Line | EDJ-KQ44293 | Human | 131076 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
