BSPRY
Description
The BSPRY (B-box and SPRY domain containing) is a protein-coding gene located on chromosome 9.
BSPRY might play a role in controlling the movement of calcium across epithelial cells by reducing the activity of the TRPV5 protein.
BSPRY is also known as -.
Associated Diseases
- immune deficiency, familial variable
- classic Hodgkin lymphoma
- hyper-IgM syndrome type 3
- hyper-IgM syndrome type 2
- agammaglobulinemia 10, autosomal dominant
- hyper-IgM syndrome type 5
- IgE responsiveness, atopic
- epidermolytic palmoplantar keratoderma
- immunodeficiency, common variable, 14
- severe combined immunodeficiency due to CARD11 deficiency
- immunodeficiency, common variable, 4
- immunodeficiency, common variable, 7