Entity Details

Primary name COX7B
Entity type gene
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Details

PrimaryID1349
RefseqGeneNG_033027
SymbolCOX7B
Namecytochrome c oxidase subunit 7B
ChromosomeX
LocationXq21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCOX7B_HUMAN

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005743 mitochondrial inner membrane
GO:0005746 mitochondrial respirasome
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0007417 central nervous system development
GO:0016021 integral component of membrane
GO:0045277 respiratory chain complex IV

Diseases

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Disease IDSourceNameDescription
300887 OMIMLinear 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. The disease is caused by variants affecting the gene represented in this entry.