COX2_HUMAN
Source:
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
MT-CO2
, COII, COXII, MTCO2
Protein names and data:
COX2_HUMAN
, Cytochrome c oxidase subunit 2
, Cytochrome c oxidase polypeptide II
Lenght: 227 a.a.
Mass: 25565 Da
fasta formatted sequence
Function:
Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1.
Disease:
( OMIM:
220110
516040
)
Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion inner membrane; Multi-pass membrane protein.
Genetic variants
11 - 11
D -> A. VAR_008863
29 - 29
M -> K (in MT-C4D; affect the stability of the COX complex). VAR_035085
30 - 30
I -> V. VAR_011344
123 - 123
L -> P. VAR_008571
142 - 142
V -> M (in colorectal cancer). VAR_008390
148 - 148
A -> T. VAR_011345
187 - 187
T -> M. VAR_008572
Database cross-references
UniProt:
P00403
Ensembl:
ENST00000361739
MIM:
220110
MIM:
516040
neXtProt:
NX_P00403
Antibodypedia:
P00403
(may not find the protein thus also not any antibody)
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