GAB3
Description
The GAB3 (GRB2 associated binding protein 3) is a protein-coding gene located on chromosome X.
The GAB3 gene encodes a protein called GRB2-associated binding protein 3. This protein belongs to a family of scaffolding/docking proteins involved in various growth factor and cytokine signaling pathways. These proteins contain a pleckstrin homology domain and bind to SHP2 tyrosine phosphatase and GRB2 adapter protein. The GAB3 protein plays a role in macrophage differentiation. Multiple transcript variants are produced through alternative splicing.
GAB3 is also known as -.
Associated Diseases
- immunodeficiency 18
- agammaglobulinemia 7, autosomal recessive
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 105
- reticular dysgenesis
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- severe combined immunodeficiency due to IKK2 deficiency
- combined immunodeficiency with skin granulomas
- Wiskott-Aldrich syndrome
- severe combined immunodeficiency due to LAT deficiency
- severe combined immunodeficiency due to CD70 deficiency
- short-limb skeletal dysplasia with severe combined immunodeficiency
- autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
- immunodeficiency 67
- combined immunodeficiency due to moesin deficiency
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 19
- monocytopenia with susceptibility to infections
