MICOS13 Gene Summary [Human]

Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Processed Transcript
Official Symbol
MICOS13
Official Name
mitochondrial contact site and cristae organizing system subunit 13 [Source:HGNC Symbol;Acc:HGNC:33702]
Ensembl ID
ENSG00000174917
Bio databases IDs NCBI: 125988 Ensembl: ENSG00000174917
Aliases mitochondrial contact site and cristae organizing system subunit 13
Synonyms 2410015M20Rik, C19orf70, MIC12, MIC13, mitochondrial contact site and cristae organizing system subunit 13, P117, QIL1, sr104
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MICOS13 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • MICOS complex subunit MIC13, QIL1
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hereditary disorder
  • combined oxidative phosphorylation deficiency 37
  • mitochondrial disorder
regulated by
  • GSKJ4
  • ammonium
role in cell
  • formation
  • dynamics
  • dynamics in
  • remodeling
  • remodeling in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial inner membrane
  • nucleoplasm
  • organelle membrane contact site

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MICOS13 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cristae formation
  • inner mitochondrial membrane organization

Cellular Component

Where in the cell the gene product is active
  • mitochondrial crista junction
  • mitochondrion
  • mitochondrial sorting and assembly machinery complex
  • mitochondrial inner membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.