CYBA

Cytochrome b is comprised 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), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]

Description

Cytochrome b-245 alpha chain

Tissue specificity

Tissue enhanced (bone marrow, lymphoid tissue)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

16 (88643289 - 88651054)

Ensembl ID

ENSG00000051523  (ver. 103.38)

Orthologs

Mouse Cyba: ENSMUSG00000006519

UniProt

P13498

neXtProt

NX_P13498

Human splice variants
Mouse splice variants

Protein structure