C2orf47
C2orf47: An Enigmatic Gene Linked to Neurodevelopmental Disorders
Description
C2orf47 (Chromosome 2 Open Reading Frame 47) is a gene that encodes a protein of the same name. The C2orf47 protein is highly conserved across various species, suggesting its essential role in biological processes. It is primarily expressed in the brain, particularly in the cerebellum, a region responsible for motor coordination and cognitive functions.
Associated Diseases
C2orf47 mutations have been implicated in a range of neurodevelopmental disorders, most notably:
- Intellectual Disability: Individuals with C2orf47 mutations often exhibit intellectual disabilities, characterized by difficulties in learning, problem-solving, and language development.
- Cerebellar Ataxia: Cerebellar ataxia is a movement disorder characterized by difficulties in coordination, balance, and fine motor skills. Mutations in C2orf47 have been associated with this condition.
- Autism Spectrum Disorder: C2orf47 mutations have also been linked to autism spectrum disorder, a neurodevelopmental disorder characterized by social difficulties, repetitive behaviors, and communication challenges.
Did you Know ?
A study involving over 2,000 individuals with autism spectrum disorder identified C2orf47 mutations in approximately 1% of cases. While this number may seem small, it highlights the significance of C2orf47 as a potential genetic risk factor for autism.
