COX7B

COX7B (Cytochrome C Oxidase Subunit 7B) is a Protein Coding gene. Diseases associated with COX7B include Linear Skin Defects With Multiple Congenital Anomalies 2 and Linear Skin Defects With Multiple Congenital Anomalies 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX7B2.

Cytochrome C Oxidase Subunit 7B

Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix (By similarity).

Plays a role in proper central nervous system (CNS) development in vertebrates (PubMed:23122588).

Central nervous system development Source: UniProtKB
Mitochondrial electron transport, cytochrome c to oxygen Source: Reactome

Mitochondrion inner membrane

Linear skin defects with multiple congenital anomalies 2 (LSDMCA2):
A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.

Mitochondrial matrix: 25-32
Helical: 33-59
Mitochondrial intermembrane: 60-80