• 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(Read more about gnomAD pLI score)
LOEUF
1.13(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
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)