MICOS10
Mitochondrial Contact Site and Cristae Organizing System Subunit 10
Gene Information Card
| Symbol | MICOS10 |
|---|---|
| Full Name | Mitochondrial Contact Site and Cristae Organizing System Subunit 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 116511 ncbi.nlm.nih.gov/gene/116511 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q5T6S3 |
| OMIM ID | 616647 |
| HGNC ID | 28478 |
| Aliases | MINOS1, MIO10, DC11, MIC10 |
Description
MICOS10 encodes a subunit of the mitochondrial contact site and cristae organizing system (MICOS), a complex essential for maintaining mitochondrial inner membrane architecture and cristae junctions. The protein localizes to the mitochondrial inner membrane and is involved in the formation and stabilization of cristae, which are critical for efficient oxidative phosphorylation and mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy | Disruption of MICOS complex leads to abnormal cristae morphology and impaired mitochondrial respiration | PMID: 25533947 |
| Leigh syndrome | MICOS10 mutations cause cristae disorganization and respiratory chain deficiency | PMID: 27319982 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Trp) | Missense | Rare | Loss of MICOS complex integrity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair MICOS complex assembly and cristae formation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • MICOS complex (GO:0061617) |
| • cristae formation (GO:0042407) | • mitochondrion organization (GO:0007005) |
Pathways
• Mitochondrial cristae organization (Reactome: R-HSA-8949215)
• MICOS complex assembly (Reactome: R-HSA-8949216)
Protein Summary
MICOS10 is a 10 kDa mitochondrial inner membrane protein that forms part of the MICOS complex. It is essential for maintaining cristae junctions and mitochondrial morphology. Loss of MICOS10 leads to fragmented mitochondria, reduced respiratory capacity, and has been linked to mitochondrial encephalopathy and Leigh syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MICOS10 Knockout HEK293 Cell Line | EDJ-KQ14260 | Human | 440574 | Details Get a Quote |
| MICOS10 Knockout A-549 Cell Line | EDJ-KQ44269 | Human | 440574 | Details Get a Quote |
| MICOS10 Knockout HCT 116 Cell Line | EDJ-KQ44270 | Human | 440574 | Details Get a Quote |
| MICOS10 Knockout HeLa Cell Line | EDJ-KQ44271 | Human | 440574 | Details Get a Quote |
| MICOS10-NBL1 Knockout HEK293 Cell Line | EDJ-KQ52503 | Human | 100532736 | Details Get a Quote |
| MICOS10-NBL1 Knockout HeLa Cell Line | EDJ-KQ60966 | Human | 100532736 | Details Get a Quote |
| MICOS10-NBL1 Knockout A-549 Cell Line | EDJ-KQ69441 | Human | 100532736 | Details Get a Quote |
| MICOS10-NBL1 Knockout HCT 116 Cell Line | EDJ-KQ77792 | Human | 100532736 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
