Information on NCF1
Basic details
Alt. symbols: p47phox | NOXO2 | NCF1A | SH3PXD1A
Approved name: neutrophil cytosolic factor 1
Alt. names: neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1) | NADPH oxidase organizer 2, chronic granulomatous disease, autosomal 1
Location: 7q11.23: 74774011 - 74789315 (+)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: | pLI: 0.92335956 | LOEUF: 1.133
Normal function
Dysfunction and disease
Chronic granulomatous disease due to deficiency of NCF-1 [MIM:233700]. Biallelic mutations in NCF1 cause Chronic granulomatous disease due to deficiency of NCF-1. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some indi viduals do not show symptoms until later in life. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CGD1 |
Granulomatous disease, chronic, 1 | AR |
233700 |
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 NCF1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000289473.11 | 1 | CCDS34657 | Select | protein_coding | 11 | Yes | 1459 | NM_000265 |
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 | - | EX2-4,6-7,10 (>98%) [NCF1B,NCF1C] |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | 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 NCF1
| ID | Year | Title | Journal | PMID | Variants |
|---|