NCF4 Chromosome 22
Neutrophil cytosolic factor 4
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What This Gene Does
The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Granulomatous disease
chronic
autosomal recessive
cytochrome b-positive
type 3
NCF4-related disorder
Chronic granulomatous disease
Key Variants
RS112273712
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1160758215
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS143532979
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS146911421
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS200865261
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS567656365
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS766525712
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS766613420
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1200078508
Likely pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1939893821
Likely pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS2145702588
Likely pathogenic
Chronic granulomatous disease, Chronic granulomatous disease
Health Risk
RS867575163
Likely pathogenic
Chronic granulomatous disease, Chronic granulomatous disease
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112273712 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS1160758215 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS143532979 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS146911421 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS200865261 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS567656365 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS766525712 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS766613420 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS1200078508 | Health Risk | Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1939893821 | Health Risk | Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2145702588 | Health Risk | Likely pathogenic | Chronic granulomatous disease, Chronic granulomatous disease |
| RS867575163 | Health Risk | Likely pathogenic | Chronic granulomatous disease, Chronic granulomatous disease |
| RS1327793505 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1601543670 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1940176752 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1940184559 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2517920041 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2517929064 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2517929080 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2517929586 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2548810898 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS387906808 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS758210984 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS869025585 | Health Risk | Pathogenic | Chronic granulomatous disease, Granulomatous disease, chronic |
| RS876657377 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS199890705 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS201021542 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS28445840 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS757106743 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |