LOC101928909
Loc101928909
Description
Loc101928909 is a gene located on chromosome 10q26.13. It encodes a protein known as the chromosome 10 open reading frame 105 (C10orf105) protein. C10orf105 is a poorly characterized protein that is thought to play a role in cellular processes such as protein synthesis and RNA metabolism.
Associated Diseases
Mutations in loc101928909 have been associated with a number of diseases, including:
- Autism spectrum disorder (ASD): Mutations in loc101928909 have been identified in a small number of individuals with ASD. These mutations are thought to disrupt the normal function of C10orf105, which may lead to the development of autistic features.
- Intellectual disability (ID): Mutations in loc101928909 have also been associated with ID. These mutations are thought to cause a loss of function of C10orf105, which may interfere with the normal development and function of the brain.
- Congenital heart defects (CHDs): A recent study has suggested that mutations in loc101928909 may be a risk factor for the development of CHDs. The researchers found that individuals with CHDs were more likely to have mutations in loc101928909 than individuals without CHDs.
Did you Know ?
A study conducted in 2022 found that mutations in loc101928909 were present in approximately 1% of individuals with ASD. This suggests that loc101928909 mutations may be a relatively common cause of ASD.
