The FCHO1 gene codes for a protein called FCH domain only 1 [R, R].
FCHO1 is important for the development and function of immune cells called T cells. Without this protein, T cells cannot develop fully and fight disease [R].
Mutations in FCHO1 appear to cause T and B cell lymphopenia (also called lymphocytopenia), a defect in immune function. People with this condition do not have enough immune cells to effectively fight off infection. They tend to get sick much more often than normal, but otherwise may not have any symptoms [R, R].
Variants in FCHO1 have also been linked to [R, R, R, R, R]:
- Systemic sclerosis
- Coronary artery disease
- Tuberculosis risk
- Breast cancer
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