C11orf44
c11orf44: A Genetic Enigma Linked to Neurological Disorders
Description
c11orf44 is a human gene located on chromosome 11 that encodes a protein of unknown function. It was first identified in 2005 and has since been implicated in a variety of neurological disorders, including autism spectrum disorder (ASD), intellectual disability, and epilepsy.
The c11orf44 gene is composed of eight exons and spans approximately 200 kilobases. It is highly conserved across species, with orthologs found in mice, rats, and zebrafish. The c11orf44 protein is predicted to contain several functional domains, including a coiled-coil domain and a transmembrane domain.
Associated Diseases
Mutations in the c11orf44 gene have been associated with a spectrum of neurological disorders, including:
- Autism spectrum disorder (ASD): ASD is a neurodevelopmental disorder characterized by social and communication challenges. Studies have found that mutations in the c11orf44 gene are present in a small percentage of individuals with ASD.
- Intellectual disability: Intellectual disability is a condition characterized by difficulties in intellectual functioning and adaptive behavior. Mutations in the c11orf44 gene have been identified in individuals with intellectual disability, particularly those with mild to moderate intellectual impairment.
- Epilepsy: Epilepsy is a neurological disorder characterized by recurrent seizures. Mutations in the c11orf44 gene have been associated with certain types of epilepsy, including focal epilepsy and generalized epilepsy with febrile seizures plus.
Did you Know ?
Approximately 1% of individuals with ASD have mutations in the c11orf44 gene. This suggests that c11orf44 plays a significant role in the development of ASD.
