COA7
Description
The COA7 (cytochrome c oxidase assembly factor 7) is a protein-coding gene located on chromosome 1.
COA7, also known as Beta-lactamase hap-like protein, Respiratory chain assembly factor 1 (RESA1), Sel1 repeat-containing protein 1 (SELRC1), or C1orf163, is a protein encoded by the COA7 gene. It's an assembly factor crucial for the mitochondrial respiratory chain. Mutations in COA7 can lead to cytochrome c oxidase deficiency, resulting in spinocerebellar ataxia with axonal neuropathy type 3 and mitochondrial myopathy.
COA7 is located on chromosome 1 and comprises 3 exons. It produces a 25.7 kDa protein containing 231 amino acids. This protein belongs to the hcp beta-lactamase family and has five Sel1-like tetratricopeptide repeat domains. It's believed to be a soluble mitochondrial protein rich in cysteine and has an N-acetylalanine amino acid modification at position 2.
COA7 is an assembly factor essential for normal mitochondrial respiratory chain activity.
COA7 is also known as C1orf163, RESA1, SCAN3, SELRC1.
