MGP Database

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MGP000654

UniProt Annotations

Entry Information
Gene Namecytochrome c oxidase subunit VIIb
Protein EntryCOX7B_HUMAN
UniProt IDP24311
SpeciesHuman
Comments
Comment typeDescription
DiseaseAplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies (APLCC) [MIM:300887]: 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. {ECO:0000269|PubMed:23122588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates. {ECO:0000269|PubMed:23122588}.
SimilarityBelongs to the cytochrome c oxidase VIIb family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane {ECO:0000250}.
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