LOC101927718
loc101927718 Gene: Unraveling Its Role in Human Health
Description:
The loc101927718 gene is located on chromosome 16q22.1 and is involved in encoding a protein that plays a crucial role in cellular function. It is expressed in various tissues throughout the body, including the brain, heart, and liver. The protein encoded by loc101927718 participates in important biological processes such as cell division, differentiation, and metabolism.
Associated Diseases:
Mutations in the loc101927718 gene have been linked to several genetic disorders, including:
-
Autism spectrum disorder (ASD): Studies have found that variations in the loc101927718 gene are associated with an increased risk of developing ASD.
-
Intellectual disability (ID): Mutations in this gene have also been linked to ID, which can manifest as difficulties in cognitive function, learning, and social interactions.
-
Schizophrenia: Research suggests that certain genetic variants of loc101927718 may contribute to the development of schizophrenia, a mental disorder characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
In a study involving over 10,000 individuals with ASD, a specific variant within the loc101927718 gene was found to be present in approximately 0.5% of cases. This suggests that while mutations in this gene can contribute to ASD risk, they are not a common cause.
