PLXNB1
Unveiling the PLXNB1 Gene: A Gateway to Understanding Neurodevelopmental Disorders and Cancer
Description:
The PLXNB1 gene, located on chromosome 20, encodes pleiotrophin receptor protein 1, a protein that plays a crucial role in various cellular processes. It is involved in signaling pathways that regulate cell migration, adhesion, differentiation, and survival. PLXNB1 is expressed in many tissues throughout the body, including the brain, muscles, and immune cells.
Associated Diseases:
Mutations in the PLXNB1 gene have been linked to a diverse range of diseases, including:
- Neurodevelopmental disorders: PLXNB1 mutations have been implicated in autism spectrum disorder, schizophrenia, and intellectual disability. These mutations can disrupt the normal development of neural circuits, leading to cognitive and behavioral impairments.
- Cancer: PLXNB1 has been shown to promote tumor growth and metastasis in certain types of cancer, including breast, lung, and colorectal cancer. It can contribute to tumor angiogenesis (formation of new blood vessels) and invasion of surrounding tissues.
Did you Know ?
- Approximately 1% of individuals with autism spectrum disorder have mutations in the PLXNB1 gene.
