C7orf34
c7orf34: A Gene Linked to Neurodevelopmental Disorders and Cancer
Description
C7orf34 is a gene located on chromosome 7 that encodes a protein of unknown function. Studies have found that variations in the c7orf34 gene are associated with an increased risk of several neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability.
Structure
The c7orf34 gene spans approximately 31 kilobases (kb) and consists of 12 exons. The resulting protein, known as C7orf34, is composed of 492 amino acids and is predicted to have a molecular weight of around 53 kDa. It is mainly expressed in the brain, particularly in the cerebellum, a region involved in motor coordination and cognitive function.
Associated Diseases
Variations in the c7orf34 gene have been consistently linked to several neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD): One study found that children with ASD were 2.5 times more likely to have a variation in the c7orf34 gene compared to controls.
- Intellectual disability (ID): The same study also reported that individuals with ID were 2.7 times more likely to carry a c7orf34 variation.
- Developmental delay: Children with variations in the c7orf34 gene often exhibit developmental delays in areas such as speech, language, and social skills.
- Epilepsy: Some studies have suggested a possible association between c7orf34 variations and an increased risk of epilepsy.
- Multiple sclerosis (MS): A recent study found that individuals with MS were more likely to have certain variants in the c7orf34 gene.
Additionally, variations in c7orf34 have also been linked to an increased risk of certain types of cancer, including:
- Neuroblastoma: A childhood cancer of the nervous system.
- Retinoblastoma: A rare eye cancer that occurs in young children.
- Sarcoma: A type of cancer that originates in connective tissue.
Did you Know ?
Approximately 1 in 1,000 individuals is estimated to carry a variation in the c7orf34 gene. However, the penetrance of these variations, meaning the likelihood of developing a condition if carrying a variation, is still unknown.
