SHCBP1
Description
The SHCBP1 (SHC binding and spindle associated 1) is a protein-coding gene located on chromosome 16.
SHC SH2 domain-binding protein 1 is a protein that in humans is encoded by the SHCBP1 gene. SHCBP1 has been shown to interact with SHC1.
SHCBP1 potentially participates in signaling pathways that control cellular proliferation, growth, and differentiation. It might also be part of a new signaling pathway triggered by Shc. Additionally, it acts as a positive regulator of FGF signaling in neural progenitor cells.
SHCBP1 is also known as PAL.
Associated Diseases
- cancer
- urinary bladder carcinoma
- common variable immunodeficiency
- combined immunodeficiency due to partial RAG1 deficiency
- combined immunodeficiency with skin granulomas
- X-linked severe congenital neutropenia
- neutropenia, severe congenital, 2, autosomal dominant
