NCF1C
Description
The NCF1C (neutrophil cytosolic factor 1C (pseudogene)) is a pseudo gene located on chromosome 7.
NCF1C is a human pseudogene related to NCF1, the gene responsible for encoding the 47 kDA cytosolic subunit of NADPH oxidase. While NCF1C is non-functional itself, it can recombine with the functional NCF1 gene in chronic granulomatous disease, leading to inactivation of NCF1.
May be involved in the activation of NADPH oxidase, which is crucial for the production of superoxide, a reactive oxygen species with important roles in immune responses.
NCF1C is also known as SH3PXD1C.
Associated Diseases
- immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
- hepatorenocardiac degenerative fibrosis
- low phospholipid associated cholelithiasis
- periodic fever, immunodeficiency, and thrombocytopenia syndrome
- Senior-Boichis syndrome
- dilated cardiomyopathy 1I
- immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
- hemolytic anemia due to glucophosphate isomerase deficiency
- pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- chronic granulomatous disease
- renal-hepatic-pancreatic dysplasia 1
- dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
- cancer
