Disorders

Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes)

Synonym(s): COX Deficiency (nuclear genes), Cytochrome c Oxidase Deficiency, Mitochondrial Complex IV Deficiency (nuclear genes)

OMIM

Gene	Locus	Protein
COX10	17p12
COX15	10q24
COX6B1	19q13.1	Cytochrome c oxidase subunit 6B1
FASTKD2	2q33.3
SCO1	17p13.1	Protein SCO1 homolog
SCO2	22q13.33	Protein SCO2 homolog
SURF1	9q33-q34
TACO1	17q23.3	Protoheme IX farnesyltransferase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands
Transgenomic - New Haven, CT, USA
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA
UCL Hospitals, Clinical Biochemistry Laboratory - London, Great Britain

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.