WDR61
The WDR61 Gene: An Enigma Unraveling
Introduction
The human genome, a complex tapestry of genetic information, holds the blueprints for our existence. Amidst this vast expanse of DNA lies a captivating gene known as WDR61 (WD Repeat Domain 61). This enigmatic gene has garnered significant attention in recent years, shedding light on its potential role in a myriad of neurological and developmental disorders.
Description
WDR61 is located on chromosome 7q21.11 and encodes a protein with a WD repeat domain, a structural motif involved in protein-protein interactions. This domain enables WDR61 to form a complex with other proteins, influencing their activity and cellular functions.
Associated Diseases
Mutations in the WDR61 gene have been linked to several neurological and developmental conditions, including:
- Microcephaly (MCPH11): A rare genetic disorder characterized by an abnormally small head size.
- Medial temporal lobe epilepsy (MTLE): A common form of epilepsy that affects the medial temporal lobes of the brain.
- Intellectual disability (ID): A range of developmental disabilities that impair cognitive abilities and adaptive functioning.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder characterized by social and communication difficulties.
Did you Know ?
According to recent studies, mutations in the WDR61 gene are estimated to account for approximately 1-2% of cases of non-syndromic intellectual disability.
