HUWE1
Description of HUWE1
HUWE1 (HECT, UBA, and WWE domain-containing E3 ubiquitin ligase 1) is a protein that plays a crucial role in various cellular processes, including DNA repair, cell cycle regulation, and signal transduction. It is encoded by the HUWE1 gene located on chromosome 1q42.1. HUWE1 is characterized by the presence of three functional domains: a HECT (homologous to E6-associated protein C-terminus) domain responsible for ubiquitination, a UBA (ubiquitin-associated) domain involved in ubiquitin binding, and a WWE (WW domain-containing E3 ubiquitin ligase) domain that interacts with specific target proteins.
Associated Diseases
Mutations in the HUWE1 gene have been linked to several human diseases, including:
- Angelman syndrome: A neurodevelopmental disorder characterized by intellectual disability, speech impairment, and movement problems.
- Infantile onset encephalopathy: A severe brain disorder that leads to developmental delays, seizures, and early death.
- Congenital microcephaly: A condition characterized by an abnormally small head circumference due to reduced brain growth.
- Microcephalic primordial dwarfism: A rare disorder that affects growth and development, resulting in dwarfism and microcephaly.
Did you Know ?
According to the National Organization for Rare Disorders (NORD), Angelman syndrome affects approximately 1 in 12,000 to 1 in 15,000 people worldwide. The majority of cases are caused by mutations in the HUWE1 gene.
