KIAA0408
KIAA0408: A Comprehensive Guide
Description
KIAA0408, also known as UHMK1 or KIAA0408p, is a protein-coding gene located on chromosome 11p15.4 in humans. It encodes a protein called Kinesin family member K408, which plays a crucial role in cellular transport and intracellular trafficking. KIAA0408 is highly expressed in the brain, particularly in the cerebral cortex and hippocampus, and is believed to be involved in cognitive functions and neurodevelopmental processes.
Associated Diseases
Dysregulation of KIAA0408 has been implicated in several neurological and developmental disorders:
- Intellectual disability (ID): Mutations in KIAA0408 have been associated with nonsyndromic intellectual disability, a condition characterized by significant cognitive impairment.
- Autism spectrum disorder (ASD): Studies have identified genetic variants in KIAA0408 as potential risk factors for ASD, a neurodevelopmental disorder characterized by difficulties in social interaction and communication.
- Schizophrenia: Research suggests that KIAA0408 may play a role in the development of schizophrenia, a severe mental illness characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
Approximately 1 in 250 individuals worldwide is estimated to have an intellectual disability associated with a genetic mutation. This makes intellectual disability one of the most common developmental disorders in the world.
