| CYBA |
| LOCUS ID | 1535 | |||||||||||||
| GENE_SYMBOL | CYBA | |||||||||||||
| GENE NAME | cytochrome b-245, al | |||||||||||||
| SYNONYMNS | p22-PHOX | |||||||||||||
| CHROMOSOME | 16 | |||||||||||||
| HOMOLOGENE ID | 80 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| 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] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. Potential candidate genes in these regions that have been implicated in diabetic nephropathy and/or renal damage in models of hypertension include CYBA (or P22PHOX) (16q24), NOX1 (10q22), and NOX3 (6q25.1-q26) | 17336700 |
| Atherosclerosis | 1. The A640G CYBA polymorphism may be a marker of oxidative stress risk and may be indicative of subclinical atherosclerosis in type 2 diabetes. | 21622150 |