InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COX7B

Summary

InnateDB Protein

IDBP-477638.2

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COX7B

Protein Name

cytochrome c oxidase subunit VIIb

Synonyms

APLCC;

Species

Homo sapiens

Ensembl Protein

ENSP00000417656

InnateDB Gene

IDBG-77691 (COX7B)

Protein Structure

UniProt Annotation

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:0000269PubMed:23122588}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000250}.

Disease Associations

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:0000269PubMed:23122588}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004129	cytochrome-c oxidase activity

Biological Process

GO:0007417	central nervous system development
GO:0022904	respiratory electron transport chain
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:1902600	hydrogen ion transmembrane transport