FAM106CP
FAM106CP: A Comprehensive Guide
Description
FAM106CP (Family with sequence similarity 106, member C, pseudogene) is a gene located on the X chromosome that encodes a protein of unknown function. The FAM106CP protein contains a conserved domain known as the FAM106 domain, which is found in several other proteins involved in membrane trafficking and vesicle transport. However, the exact role of FAM106CP in these processes remains unclear.
Associated Diseases
Mutations in the FAM106CP gene have been linked to several rare genetic disorders, including:
- X-linked intellectual disability (XLID): A group of cognitive impairments caused by mutations on the X chromosome.
- Autism spectrum disorder (ASD): A developmental disorder characterized by difficulties with social interaction and communication.
- Schizophrenia: A mental health disorder characterized by hallucinations, delusions, and disordered thinking.
Did you Know ?
Studies have shown that mutations in the FAM106CP gene are found in approximately 1% of individuals with XLID. This suggests that FAM106CP plays a significant role in cognitive development.
