C12orf40
c12orf40: An Emerging Gene Linked to Neurological Disorders
Description
c12orf40 is a human gene located on chromosome 12. It encodes a protein known as Chromosome 12 Open Reading Frame 40 (C12orf40). This protein is mainly expressed in the central nervous system, particularly in the brain and spinal cord.
C12orf40 belongs to the Ras superfamily of small GTPases, which play a crucial role in various cellular processes such as cell growth, proliferation, and development. C12orf40 specifically acts as a regulator of cell migration and neurite outgrowth during neuronal development.
Associated Diseases
Mutations in the c12orf40 gene have been linked to several neurological disorders, including:
- Intellectual Disability: c12orf40 mutations can cause severe intellectual disability with microcephaly (small head size).
- Autism Spectrum Disorder (ASD): C12orf40 mutations have been implicated in the development of ASD, characterized by social difficulties, communication deficits, and repetitive behaviors.
- Schizophrenia: Studies have found an association between c12orf40 mutations and an increased risk of schizophrenia, a severe mental illness characterized by hallucinations, delusions, and impaired thinking.
- Epilepsy: C12orf40 mutations have been identified in individuals with refractory epilepsy, a condition where seizures are difficult to control with medications.
Did you Know ?
According to the National Human Genome Research Institute (NHGRI), mutations in the c12orf40 gene are found in approximately 1 in 10,000 individuals. However, the prevalence may be higher in individuals with certain neurological disorders, such as intellectual disability and ASD.
