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MGP000742

Record overview

MGPD IDMGP000742
Gene ID1536
SpeciesHomo sapiens (Human)
Gene Namecytochrome b-245, beta polypeptide
Gene Symbol CYBB
SynonymsCGD; NOX2; IMD34; AMCBX2; GP91-1; GP91PHOX; p91-PHOX; GP91-PHOX;
Alternate namescytochrome b-245 heavy chain; CGD91-phox; NADPH oxidase 2; cytochrome b(558) subunit beta; cytochrome b558 subunit beta; heme-binding membrane glycoprotein gp91phox; neutrophil cytochrome b 91 kDa polypeptide; p22 phagocyte B-cytochrome; superoxide-generating NADPH oxidase heavy chain subunit;
ChromosomeX
Map LocationXp21.1
EC Number1.-.-.-
SummaryCytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for CYBB

Proteins

cytochrome b-245 heavy chain
Refseq ID:NP_000388
Protein GI:6996021
UniProt ID:P04839
mRNA ID:NM_000397
Length:570
RefSeq Status:
MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTF
HKMVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRS
YFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFS
YEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKD
VITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF
 
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