C11orf1
c11orf1: The Gene Behind a Host of Rare Diseases
Introduction:
c11orf1 is a gene located on chromosome 11 that plays a crucial role in cell function. Mutations in this gene have been linked to a variety of rare diseases, affecting both children and adults. In this comprehensive blog post, we delve into the world of c11orf1, exploring its functions, associated diseases, fascinating statistics, references, and the latest research findings.
Description:
The c11orf1 gene encodes a protein of the same name that is involved in various cellular processes. It is part of a protein complex that helps to regulate gene expression, particularly during early embryonic development. Mutations in this gene can disrupt these essential processes, leading to developmental abnormalities and disease.
Associated Diseases:
Mutations in c11orf1 have been linked to the following rare diseases:
- Joubert Syndrome: A neurodevelopmental disorder characterized by intellectual disability, ataxia, and distinctive brain malformations.
- Orofacial Dysostosis Type 1: A craniofacial disorder characterized by abnormal facial features, including cleft lip and palate, and eye abnormalities.
- Wilms Tumor: A type of kidney cancer that occurs primarily in children.
- Alström Syndrome: A rare condition characterized by obesity, diabetes, retinal degeneration, and hearing loss.
- Adducted Thumb-Clubfoot Syndrome: A rare genetic disorder involving musculoskeletal abnormalities, including adducted thumbs and clubfeet.
Did you Know ?
Approximately 1 in 500,000 individuals is affected by Joubert Syndrome, making it one of the most common ciliopathies, a group of disorders caused by defects in the cilia, tiny hair-like structures that play a critical role in cell function.
