B-raf Protein Summary

B-raf (serine/threonine-protein kinase B-raf) is a protein kinase that transduces mitogenic signals from the cell membrane to the nucleus, primarily by phosphorylating MAP2K1 to activate the MAP kinase signal transduction pathway (UniProt: P15056). The protein also phosphorylates PFKFB2 and may play a role in postsynaptic responses of hippocampal neurons.

B-raf is implicated in multiple disease pathways, including various cancers (colorectal, lung, and non-Hodgkin lymphoma) where mutations drive malignant progression. Additionally, B-raf mutations cause developmental disorders including cardiofaciocutaneous syndrome 1, Noonan syndrome 7, and LEOPARD syndrome 3—all characterized by congenital heart defects, facial dysmorphism, and growth or intellectual involvement (UniProt: P15056).

B-raf is curated as a syndromic gene with SFARI category S classification (SFARI Cat S), indicating association with syndromic forms of autism spectrum disorder. The developmental and neurological features of B-raf-related syndromes support this neurodevelopmental relevance.