NCF1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NCF1 (HGNC:7660) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- neutrophil cytosolic factor 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- p47phox, NOXO2, NCF1A, SH3PXD1A
- %HI
- 67.53(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.82(Read more about gnomAD pLI score)
- LOEUF
- 0.62(Read more about gnomAD LOEUF score)
- Cytoband
- 7q11.23
- Genomic Coordinates
-
GRCh37/hg19: chr7:74188309-74203720 NCBI Ensembl UCSC GRCh38/hg38: chr7:74774011-74789315 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000265.7 ENST00000289473.11 (Read more about MANE Select)
- Function
- NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). {ECO:0000269|PubMed:19801500, ECO:0000269|PubMed:2547247, ECO:0000269|PubMed:2550933}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26246
ClinGen Curation ID:
CCID:007521
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/10/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 Monarch
HI Evidence Comments:
While haploinsufficiency for NCF1 alone has not been demonstrated, deletions involving the larger 7q11.23 region cause the contiguous gene deletion disorder, Williams-Beuren syndrome (WBS) (MIM #194050). Deletions of this region in WBS patients variably include the NCF1 gene. Genotype-phenotype correlation studies suggest that WBS patients with deletions that do not include this gene may be at higher risk for hypertension [PMID 16532385].
Homozygous mutation of NCF1 causes autosomal recessive chronic granulomatous disease (MIM #233700).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
NCF1 is variably included in the duplication of patients with the chromosome 7q11.23 microduplication syndrome [MIM #609757], however it is not known whether increased NCF1 gene dosage contributes to any of the associated phenotypes; focal NCF1 duplication has not been reported.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)