LOC100507291
Loc100507291: A Gene with Complex Roles in Health and Disease
Description
Loc100507291 is a gene located on chromosome 10 that encodes a protein known as PPP1R16B. This protein is a regulatory subunit of protein phosphatase 1 (PP1), a complex enzyme that plays a crucial role in many cellular processes, including cell growth, differentiation, and metabolism.
Associated Diseases
Mutations in loc100507291 have been associated with several human diseases, including:
- Autism spectrum disorder (ASD): Studies have shown that mutations in loc100507291 are present in a small percentage of individuals with ASD.
- Intellectual disability: Similar to ASD, mutations in loc100507291 have been linked to intellectual disability in some cases.
- Type 2 diabetes: Certain variants of loc100507291 have been associated with an increased risk of developing type 2 diabetes, potentially by affecting insulin signaling.
- Schizophrenia: While the exact role of loc100507291 in schizophrenia is still under investigation, some studies suggest that mutations in this gene may contribute to the development of the disorder.
Did you Know ?
Approximately 5% of the human population carries at least one mutation in loc100507291. However, most of these mutations do not have any noticeable effect on health. Only a small percentage of individuals with loc100507291 mutations develop associated diseases.
