CYB
entrez
4519
canonical
uniprot
P00156
canonical
ensembl
ENSG00000198727
resolver
ensp
ENSP00000354554
resolver
enst
ENST00000361789
resolver
genesymbol
CYB
resolver
genesymbol
MT-CYB
resolver
genesymbol_syn
COB
resolver
genesymbol_syn
CYTB
resolver
genesymbol_syn
MTCYB
resolver
hgnc
HGNC:7427
resolver
uniprot
Q0ZFD6
resolver
uniprot
Q34786
resolver
uniprot
Q8HBR6
resolver
uniprot
Q8HNQ0
resolver
uniprot
Q8HNQ1
resolver
uniprot
Q8HNQ9
resolver
uniprot
Q8HNR4
resolver
uniprot
Q8HNR7
resolver
uniprot
Q8W7V8
resolver
uniprot
Q8WCV9
resolver
uniprot
Q8WCY2
resolver
uniprot
Q8WCY7
resolver
uniprot
Q8WCY8
resolver
uniprot
Q9B1A6
resolver
uniprot
Q9B1B6
resolver
uniprot
Q9B1B8
resolver
uniprot
Q9B1D4
resolver
uniprot
Q9B1X6
resolver
uniprot
Q9B2V0
resolver
uniprot
Q9B2V8
resolver
uniprot
Q9B2W0
resolver
uniprot
Q9B2W3
resolver
uniprot
Q9B2W8
resolver
uniprot
Q9B2X1
resolver
uniprot
Q9B2X7
resolver
uniprot
Q9B2X9
resolver
uniprot
Q9B2Y3
resolver
uniprot
Q9B2Z0
resolver
uniprot
Q9B2Z4
resolver
uniprot
Q9T6H6
resolver
uniprot
Q9T9Y0
resolver
uniprot
Q9TEH4
resolver
uniprot_entry
CYB_HUMAN
resolver
uniprot_entry
Q0ZFD6_HUMAN
resolver
uniprot_sec
Q34786
resolver
uniprot_sec
Q8HBR6
resolver
uniprot_sec
Q8HNQ0
resolver
uniprot_sec
Q8HNQ1
resolver
uniprot_sec
Q8HNQ9
resolver
uniprot_sec
Q8HNR4
resolver
uniprot_sec
Q8HNR7
resolver
uniprot_sec
Q8W7V8
resolver
uniprot_sec
Q8WCV9
resolver
uniprot_sec
Q8WCY2
resolver
uniprot_sec
Q8WCY7
resolver
uniprot_sec
Q8WCY8
resolver
uniprot_sec
Q9B1A6
resolver
uniprot_sec
Q9B1B6
resolver
uniprot_sec
Q9B1B8
resolver
uniprot_sec
Q9B1D4
resolver
uniprot_sec
Q9B1X6
resolver
uniprot_sec
Q9B2V0
resolver
uniprot_sec
Q9B2V8
resolver
uniprot_sec
Q9B2W0
resolver
uniprot_sec
Q9B2W3
resolver
uniprot_sec
Q9B2W8
resolver
uniprot_sec
Q9B2X1
resolver
uniprot_sec
Q9B2X7
resolver
uniprot_sec
Q9B2X9
resolver
uniprot_sec
Q9B2Y3
resolver
uniprot_sec
Q9B2Z0
resolver
uniprot_sec
Q9B2Z4
resolver
uniprot_sec
Q9T6H6
resolver
uniprot_sec
Q9T9Y0
resolver
uniprot_sec
Q9TEH4
resolver
amino_acid_sequence
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in MT-CYB are a rare cause of mitochondrial dysfunction underlying different myopathies. They include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy (HCM), and sporadic mitochondrial myopathy (MM). In mitochondrial myopathy, exercise intolerance is the predominant symptom. Additional features include lactic acidosis, muscle weakness and/or myoglobinuria. Defects in MTCYB are also found in cases of exercise intolerance accompanied by deafness, intellectual disability, retinitis pigmentosa, cataract, growth retardation, epilepsy (multisystem disorder). {ECO:0000269|PubMed:11047755, ECO:0000269|PubMed:11601507}.; DISEASE: Cardiomyopathy, infantile histiocytoid (CMIH) [MIM:500000]: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. {ECO:0000269|PubMed:10960495}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269|PubMed:1732158}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis. {ECO:0000250|UniProtKB:P00157}.
uniprot
proteins
mass_dalton
42718
uniprot
proteins
protein_family
Cytochrome b family
uniprot
proteins
pubmed
10453733
uniprot
proteins
pubmed
10502593
uniprot
proteins
pubmed
10508508
uniprot
proteins
pubmed
10960495
uniprot
proteins
pubmed
11047755
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
11464242
uniprot
proteins
pubmed
11553319
uniprot
proteins
pubmed
11601507
uniprot
proteins
pubmed
11891837
uniprot
proteins
pubmed
12022039
uniprot
proteins
pubmed
12905068
uniprot
proteins
pubmed
1732158
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
6100559
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
7623448
uniprot
proteins
pubmed
8910895
uniprot
proteins
pubmed
9806551
uniprot
proteins
pubmed
9818877
uniprot
proteins
sequence_length
380
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P00157}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P00157}.
uniprot
proteins
transmembrane_region
TRANSMEM 33..53; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157"; TRANSMEM 77..98; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157"; TRANSMEM 113..133; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157"; TRANSMEM 178..198; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157"; TRANSMEM 226..246; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157"; TRANSMEM 288..308; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157"; TRANSMEM 320..340; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157"; TRANSMEM 347..367; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00157
uniprot
proteins