Information on CYBA
Basic details
Alt. symbols: p22-PHOX
Approved name: cytochrome b-245 alpha chain
Alt. names: cytochrome b-245, alpha polypeptide | flavocytochrome b-558 alpha polypeptide
Location: 16q24.2: 88643275 - 88651083 (-)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: | pLI: 0.00357298 | LOEUF: 1.626
Normal function
CYBA encodes for the light chain, also called alpha subunit, of the cytochrome b. This subunit has been proposed as primary component of the microbicidal oxidase system of phagocytes.
Dysfunction and disease
Biallelic mutations in this gene are associated with chronic granulomatous disease due to deficiency of CYBA [MIM:233690]. This is a rare and genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.' [Load More]
[Reviewed by Andrés Caballero-Oteyza on ]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CGD4 |
Granulomatous disease, chronic, 4 | AR |
233690 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CYBA
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000261623.8 | 1 | CCDS32504 | Select | protein_coding | 6 | Yes | 692 | NM_000101 |
| 208 | ENST00000567174.5 | protein_coding | 6 | No | 1085 | XM_011522905 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| 2017 | Uniparental disomy | 28341171 | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CYBA
| ID | Year | Title | Journal | PMID | Variants |
|---|