C22orf24
c22orf24: An Emerging Player in Human Health
Description
c22orf24 (chromosome 22 open reading frame 24) is a gene located on chromosome 22 in humans. It encodes a protein of 61 amino acids with unknown function. c22orf24 is highly conserved among vertebrates, suggesting that it plays an important role in biological processes.
Associated Diseases
Mutations in c22orf24 have been linked to several human diseases, including:
- Autism spectrum disorder (ASD): Mutations in c22orf24 have been found in individuals with ASD, particularly those with intellectual disability.
- Schizophrenia: Studies have suggested an association between variations in c22orf24 and an increased risk of schizophrenia.
- Intellectual disability: Mutations in c22orf24 can cause intellectual disability, often accompanied by autistic features.
- Congenital heart defects: Rare mutations in c22orf24 have been associated with congenital heart defects in newborns.
- Obesity: Some studies have linked variations in c22orf24 to an increased risk of obesity.
Did you Know ?
Research has shown that mutations in c22orf24 occur in approximately 1 in every 2,500 individuals with ASD, making it one of the more common genetic risk factors for the disorder.
