KIAA1551
KIAA1551: An Intriguing Gene and Its Medical Significance
Description
KIAA1551 is a gene located on chromosome 16 in humans. It encodes a protein with unknown function that is thought to play a role in cellular processes such as DNA repair and cell cycle regulation.
Associated Diseases
Mutations in the KIAA1551 gene have been linked to several neurological and developmental disorders, including:
- Hypomyelination with atrophy of the basal ganglia and cerebellum (HABC): Characterized by severe brain malformation, seizures, and developmental delays.
- Arthrogryposis multiplex congenita (AMC): A condition in which infants are born with multiple joint contractures.
- Intellectual disability
- Autism spectrum disorder (ASD)
- Schizophrenia
Did you Know ?
Mutations in KIAA1551 have been identified in approximately 1% of individuals with HABC.
