2024年12月24日 · COX16 (Cytochrome C Oxidase Assembly Factor COX16) is a Protein Coding gene. Diseases associated with COX16 include Mitochondrial Complex Iv Deficiency, Nuclear Type 22 and Cox Deficiency, Benign Infantile Mitochondrial Myopathy. Among its related pathways are Respiratory electron transport and Complex IV assembly.

2025年2月8日 · Here, the authors find that COX16, a protein required for cytochrome c oxidase assembly, interacts specifically with newly synthesized COX2 and its copper center-forming metallochaperones SCO1, SCO2, and COA6. The recruitment of SCO1 to the COX2-module is COX16- dependent and patient-mimicking mutations in SCO1 affect interaction with COX16.

2021年2月3日 · We show that human COX16 encodes a small mitochondrial transmembrane protein that faces the intermembrane space and is highly expressed in skeletal and cardiac muscle. Its knockdown in C. elegans produces COX deficiency, and its ablation in HEK293 cells impairs COX assembly.

2018年1月30日 · Here, we find that COX16, a protein required for cytochrome c oxidase assembly, interacts specifically with newly synthesized COX2 and its copper center-forming metallochaperones SCO1, SCO2, and COA6. The recruitment of SCO1 to the COX2-module is COX16- dependent and patient-mimicking mutations in SCO1 affect interaction with COX16.

2018年1月30日 · Our analyses show: (1) COX16 facilitates association of the metallochaperone SCO1 to newly synthesized COX2; (2) the early metalochaperone COA6 strongly associates with COX16, further supporting the role of COX16 in COX2 maturation; (3) COX16 acts at a checkpoint for proper COX2 maturation leading to increased turnover of COX2 in the absence of ...

We have characterized Cox16p, a new cytochrome oxidase (COX) assembly factor. This protein is encoded by COX16, corresponding to the previously uncharacterized open reading frame YJL003w of the yeast genome.

2018年4月1日 · We show that human COX16 encodes a small mitochondrial transmembrane protein that faces the intermembrane space and is highly expressed in skeletal and cardiac muscle. Its knockdown in C. elegans produces COX deficiency, and its ablation in HEK293 cells impairs COX assembly.

COX16 is involved in the biogenesis of cytochrome-c-oxidase (complex IV), the terminal complex of the mitochondrial respiratory chain. We present the first report of two unrelated patients with the homozygous nonsense variant c.244C>T(p. Arg82*) in …

2017年9月9日 · One such protein, Cox16p, encoded by COX16, was shown to be essential for the activity and assembly of COX. The function of Cox16p, however, has not been determined. We present evidence that Cox16p is present in Cox1p assembly intermediates and in COX.

2024年12月25日 · SYNJ2BP-COX16 (SYNJ2BP-COX16 Readthrough) is a Protein Coding gene. Diseases associated with SYNJ2BP-COX16 include Mitochondrial Complex Iv Deficiency, Nuclear Type 22 . Additional gene information for SYNJ2BP-COX16 Gene