LOC171391
Description
Loc171391 is a gene located on chromosome 17 in humans. It encodes a protein that is involved in the synthesis of certain types of RNAs. These RNAs play a crucial role in regulating gene expression, which is the process by which genes are turned on or off.
Associated Diseases
Mutations in the loc171391 gene have been linked to several diseases, including:
- Williams-Beuren syndrome: This is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and cardiovascular problems.
- Autism spectrum disorder (ASD): ASD is a complex developmental disorder that affects social and communication skills.
- Schizophrenia: Schizophrenia is a serious mental illness characterized by hallucinations, delusions, and disorganized thinking.
- Epilepsy: Epilepsy is a neurological disorder characterized by recurrent seizures.
Did you Know ?
Studies have found that mutations in the loc171391 gene are present in approximately 1% of individuals with Williams-Beuren syndrome.
