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MT000138

UniProt Annotations

Entry Information

Gene Name	cytochrome c oxidase subunit VIIb
Protein Entry	COX7B_HUMAN
UniProt ID	P24311
Species	Human

Comments

Comment type	Description
Disease	Aplasia 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.
Function	This 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}.
Similarity	Belongs to the cytochrome c oxidase VIIb family. {ECO:0000305}.
Subcellular Location	Mitochondrion inner membrane {ECO:0000250}.