MICOS13: Mitochondrial Contact Site and Cristae Organizing System Subunit 13
Essential component of the MICOS complex involved in mitochondrial cristae organization and mitochondrial DNA maintenance
Gene Information Card
| Symbol | MICOS13 |
|---|---|
| Full Name | Mitochondrial Contact Site and Cristae Organizing System Subunit 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 125988 ncbi.nlm.nih.gov/gene/125988 |
| Ensembl ID | ENSG00000188215 |
| UniProt ID | Q5VY09 |
| OMIM ID | 616647 |
| HGNC ID | 28383 |
| Aliases | C19orf52, MINOS1, M19, MIC13 |
Description
MICOS13 encodes a subunit of the mitochondrial contact site and cristae organizing system (MICOS) complex, which is critical for maintaining mitochondrial inner membrane architecture, cristae junction formation, and mitochondrial DNA (mtDNA) nucleoid organization. The protein localizes to the mitochondrial inner membrane and interacts with other MICOS subunits to stabilize cristae structure. Loss-of-function mutations in MICOS13 cause mitochondrial encephalopathy and mtDNA depletion syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | Loss-of-function mutations impair MICOS complex assembly, leading to abnormal cristae morphology, reduced mtDNA copy number, and respiratory chain deficiency. | OMIM #616647; ClinVar |
| Leigh syndrome | Biallelic MICOS13 variants disrupt mitochondrial cristae organization, causing neurodegeneration and early-onset encephalopathy. | PubMed; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 8.7 | Medium |
| Liver | 6.1 | Low |
| Brain | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | High expression in cervical cancer cell line |
| HEK293 | 7.5 | Moderate expression in embryonic kidney cells |
| SH-SY5Y | 6.0 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152T>C (p.Leu51Pro) | Missense | Rare | Disrupts MICOS complex assembly; associated with mtDNA depletion |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature stop; loss of function; causes Leigh syndrome |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation; severe mitochondrial disease |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause MICOS complex instability, cristae disorganization, and mtDNA depletion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • MICOS complex (GO:0061617) |
| • cristae formation (GO:0042407) | • mitochondrion organization (GO:0007005) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial cristae organization (Reactome: R-HSA-8949215)
• MICOS complex assembly (Reactome: R-HSA-8949216)
Protein Summary
MICOS13 is a 13 kDa protein (113 amino acids) localized to the mitochondrial inner membrane. It contains a single transmembrane domain and is a core component of the MICOS complex. The protein interacts directly with MICOS10 (MINOS1) and MICOS19 (CHCHD3) to stabilize cristae junctions. Loss of MICOS13 leads to fragmentation of cristae, impaired oxidative phosphorylation, and mtDNA instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MICOS13 Knockout HEK293 Cell Line | EDJ-KQ8843 | Human | 125988 | Details Get a Quote |
| MICOS13 Knockout A-549 Cell Line | EDJ-KQ35152 | Human | 125988 | Details Get a Quote |
| MICOS13 Knockout HCT 116 Cell Line | EDJ-KQ35153 | Human | 125988 | Details Get a Quote |
| MICOS13 Knockout HeLa Cell Line | EDJ-KQ35154 | Human | 125988 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
