PAK7
pak7 gene: A Comprehensive Guide
Description
The pak7 gene, located on chromosome 2q37.3, encodes a protein known as p21-activated kinase 7 (PAK7). PAK7 belongs to the PAK family of serine/threonine kinases, which play crucial roles in regulating cellular processes such as cell growth, motility, and survival.
PAK7 is primarily localized to the cytoplasm and is activated by binding to the small GTPase Cdc42. Once activated, PAK7 phosphorylates and activates downstream targets, including other kinases, transcription factors, and cytoskeletal proteins.
Associated Diseases
Mutations in the pak7 gene have been linked to several human diseases, including:
- X-linked mental retardation: A rare genetic disorder characterized by intellectual disability, speech impairments, and behavioral problems.
- Congenital heart defects: Defects in the structure of the heart present at birth. PAK7 mutations have been associated with atrial septal defects (ASD) and ventricular septal defects (VSD).
- Autism spectrum disorder (ASD): A developmental disorder characterized by social difficulties, repetitive behaviors, and difficulty communicating. PAK7 mutations have been identified in a small number of individuals with ASD.
Did you Know ?
Approximately 1 in 100,000 people worldwide have an X-linked mental retardation disorder caused by mutations in the pak7 gene.
