C11orf88
c11orf88: A Gene with Intriguing Roles in Health and Disease
Description
c11orf88, also known as FLJ46222, is a protein-coding gene located on chromosome 11 in humans. It comprises 12 exons and spans approximately 125 kilobases. The c11orf88 gene encodes a protein called FLJ46222 protein, which is involved in various cellular processes, including mRNA stability, cell proliferation, and apoptosis.
Associated Diseases
Mutations in the c11orf88 gene have been linked to several medical conditions, including:
1. Intellectual Disability: Mutations in c11orf88 have been identified in individuals with intellectual disability, characterized by significant limitations in cognitive abilities, social skills, and adaptive functioning.
2. Autism Spectrum Disorder (ASD): Studies have found an association between c11orf88 mutations and ASD, a neurodevelopmental condition characterized by difficulties in social interaction, communication, and repetitive behaviors.
3. Schizophrenia: Research suggests that variations in the c11orf88 gene may contribute to the risk of developing schizophrenia, a severe mental illness involving hallucinations, delusions, and disorganized thinking.
4. Cancer: Aberrations in c11orf88 expression have been linked to certain types of cancer, such as breast cancer and esophageal cancer.
Did you Know ?
Approximately 1 in 200 individuals worldwide are carriers of a mutation in the c11orf88 gene. This highlights the potential significance of this gene in human health and disease.
