TBC1D10C
Description
The TBC1D10C (TBC1 domain family member 10C) is a protein-coding gene located on chromosome 11.
TBC1D10C, also known as Carabin, inhibits the Ras signaling pathway by acting as a GTPase-activating protein (GAP). It also functions as a negative feedback inhibitor of the calcineurin signaling pathway, mediating crosstalk between these two pathways.
TBC1D10C is also known as CARABIN, EPI64C.
Associated Diseases
- common variable immunodeficiency
- IgAD1
- inborn error of immunity
- isolated agammaglobulinemia
- hyper-IgM syndrome type 2
- immune deficiency, familial variable
- immunodeficiency 25
- hyper-IgM syndrome type 3
- hyper-IgM syndrome type 5
- immunodeficiency, common variable, 7
- immunodeficiency, common variable, 4
