We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
COX20 cytochrome c oxidase assembly factor (HGNC Symbol)
Entrez gene summary
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]
Q5RI15 [Direct mapping] Cytochrome c oxidase protein 20 homolog B3KM21 [Target identity:100%; Query identity:100%] Family with sequence similarity 36, member A, isoform CRA_a; cDNA FLJ10004 fis, clone HEMBA1000076, highly similar to Protein FAM36A; cDNA FLJ43269 fis, clone KIDNE2000665, highly similar to Protein FAM36A
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion] GO:0009060 [aerobic respiration] GO:0016021 [integral component of membrane] GO:0031966 [mitochondrial membrane] GO:0033617 [mitochondrial respiratory chain complex IV assembly]