LOC100996351
Understanding Loc100996351: A Comprehensive Guide
Description
Loc100996351, also known as C10orf125, is a gene located on chromosome 10 of the human genome. It encodes a protein of 611 amino acids that plays a crucial role in cellular processes. While its exact function is still being studied, research suggests that Loc100996351 is involved in regulating gene expression and maintaining genomic stability.
Associated Diseases
Mutations in the Loc100996351 gene have been linked to several human diseases, including:
- Intellectual Disability: Abnormalities in Loc100996351 have been identified in individuals with intellectual disability, particularly those with microcephaly (abnormally small head size).
- Autism Spectrum Disorder (ASD): Studies have found an association between variations in Loc100996351 and an increased risk of ASD.
- Schizophrenia: Genetic analyses have suggested that mutations in Loc100996351 may contribute to the development of schizophrenia.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are estimated to have a mutation in the Loc100996351 gene.
