C19orf71
c19orf71: A Gene Linked to Neurodevelopmental Disorders
Description
c19orf71 is a gene located on chromosome 19 that encodes a protein of the same name. The protein is involved in several cellular processes, including RNA processing, gene expression, and neuronal development.
Associated Diseases
Mutations in the c19orf71 gene have been associated with a number of neurodevelopmental disorders, including:
- Intellectual disability: c19orf71 mutations are a common cause of intellectual disability, a condition characterized by significant difficulties in cognitive functions such as learning, problem-solving, and social interaction.
- Autism spectrum disorder (ASD): Mutations in c19orf71 have also been linked to ASD, a neurodevelopmental disorder characterized by social and communication difficulties, as well as repetitive behaviors.
- Schizophrenia: Some studies have suggested an association between c19orf71 mutations and schizophrenia, a severe mental illness characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
Approximately 1 in 1,000 people worldwide are estimated to carry a mutation in the c19orf71 gene.
