Cox20 Gene Summary [Rat]

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Details

Type
Protein Coding
Official Symbol
Cox20
Official Name
cytochrome c oxidase assembly factor COX20 [Source:RGD Symbol;Acc:1309105]
Ensembl ID
ENSRNOG00000004553
Bio databases IDs NCBI: 289278 Ensembl: ENSRNOG00000004553
Aliases cytochrome c oxidase assembly factor COX20
Synonyms 2310005N03Rik, cytochrome c oxidase assembly factor COX20, cytochrome c oxidase assembly protein 20, FAM36A, MC4DN11, RGD1309105
Species
Rat, Rattus norvegicus
OrthologiesHumanMouse

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 rat Cox20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Cytochrome c oxidase assembly protein COX20
  • 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
  • nuclear type 11 mitochondrial complex IV deficiency
  • Huntington disease
  • mitochondrial disorder
regulated by
role in cell
  • growth
  • tubulation
  • tubulation in
  • fragmentation in
  • fragmentation

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the rat Cox20 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mitochondrial respiratory chain complex IV assembly

Cellular Component

Where in the cell the gene product is active
  • mitochondrion
  • mitochondrial inner membrane

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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