Cytochrome b-245, alpha polypeptide

CYBA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCYBA, p22-PHOX, Cytochrome b-245, alpha polypeptide, cytochrome b-245 alpha chain, CGD4
External IDsOMIM: 608508; MGI: 1316658; HomoloGene: 80; GeneCards: CYBA; OMA:CYBA - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000101

NM_001301284
NM_007806

RefSeq (protein)

NP_000092

NP_001288213
NP_031832

Location (UCSC)Chr 16: 88.64 – 88.65 MbChr 8: 123.15 – 123.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cytochrome b-245 light chain is a protein that in humans is encoded by the CYBA gene involved in superoxide production and phagocytosis.[5]

Cytochrome b-245 is composed of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit, which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), which is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells.[6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000051523Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006519Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Dinauer MC, Pierce EA, Bruns GA, Curnutte JT, Orkin SH (Nov 1990). "Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease". The Journal of Clinical Investigation. 86 (5): 1729–37. doi:10.1172/JCI114898. PMC 296926. PMID 2243141.
  6. ^ "Entrez Gene: CYBA cytochrome b-245, alpha polypeptide".