LOC101928694
Loc101928694: A Gene Linked to Neurodevelopmental Disorders
Description
LOC101928694 is a gene located on chromosome 22q11.2. It encodes a protein known as LOC101928694 protein, which plays a crucial role in the development of the brain and nervous system. Mutations in this gene have been associated with a range of neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD)
- Intellectual disability
- Congenital heart defects
- Cleft lip and palate
Associated Diseases
Mutations in LOC101928694 have been implicated in several neurodevelopmental disorders, including:
- DiGeorge syndrome: A genetic condition characterized by deletions of a region on chromosome 22, including the LOC101928694 gene. DiGeorge syndrome is associated with a variety of symptoms, including heart defects, immune system dysfunction, and developmental delays.
- Velocardiofacial syndrome (VCFS): A genetic condition characterized by deletions or duplications of a region on chromosome 22, including the LOC101928694 gene. VCFS is associated with a distinctive facial appearance, heart defects, and developmental delays.
Did you Know ?
Approximately 1 in 4,000 individuals have a mutation in the LOC101928694 gene. This makes it a relatively rare genetic cause of neurodevelopmental disorders.
