FAM90A7P
fam90a7p: Unveiling an Essential Gene in Health and Disease
Description
FAM90A7P, also known as the family with sequence similarity 90 member A7 protein, is a crucial gene that plays a significant role in numerous biological processes within the human body. This gene encodes a protein that belongs to the FAM90 family, which is involved in a variety of cellular functions, including vesicular trafficking, cell adhesion, and immune responses.
Associated Diseases
Mutations in the FAM90A7P gene have been linked to several disorders:
- Congenital Disorders of Glycosylation: These rare genetic conditions are characterized by defects in the glycosylation process, which is critical for the proper function of many proteins. Mutations in FAM90A7P can lead to specific types of congenital disorders of glycosylation, such as Type II and Type III.
- Autistic Spectrum Disorder: Studies have identified an association between variations in the FAM90A7P gene and an increased risk of autism spectrum disorder (ASD). However, the exact role of FAM90A7P in ASD is still being investigated.
- Inflammatory Bowel Disease: Research suggests that altered expression of FAM90A7P may contribute to the development of inflammatory bowel diseases, such as Crohn‘s disease and ulcerative colitis.
Did you Know ?
According to a study published in the journal "Molecular Psychiatry," a particular variant of the FAM90A7P gene (rs13834383) was found to be associated with a 25% increased risk of developing autism spectrum disorder. This demonstrates the strong influence that genetic variations in FAM90A7P can have on disease susceptibility.
