EFS
Description
The EFS (embryonal Fyn-associated substrate) is a protein-coding gene located on chromosome 14.
EFS may refer to: Embryonal Fyn-associated substrate (hEFS), also known as Cas scaffolding protein family member 3.
EFS acts as a docking protein, coordinating tyrosine kinase signaling pathways crucial for cell adhesion. It can activate SRC, a key signaling molecule, and acts as a downstream effector in these pathways. EFS interacts with various proteins, including FYN (via its SH3 domain) and CRK, SRC, and YES, indicating its involvement in complex signaling networks.
EFS is also known as CAS3, CASS3, EFS1, EFS2, HEFS, SIN.
Associated Diseases
- isolated agammaglobulinemia
- severe combined immunodeficiency due to CARD11 deficiency
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- common variable immunodeficiency
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- immunodeficiency, common variable, 14
- hyper-IgM syndrome type 5
- hyper-IgM syndrome type 2
- IgE responsiveness, atopic
- autoimmune lymphoproliferative syndrome type 2B
- immunodeficiency, common variable, 7
- immunodeficiency, common variable, 4
- combined immunodeficiency due to moesin deficiency
- immunodeficiency due to selective anti-polysaccharide antibody deficiency
- immunodeficiency due to MASP-2 deficiency
- recurrent infections associated with rare immunoglobulin isotypes deficiency
