FAM35BP
FAM35BP: Exploring the Intricacies of a Novel Gene
Introduction
FAM35BP (Family with sequence similarity 35, Member B) is a recently discovered gene that has garnered significant attention due to its potential link to a wide range of diseases. This gene encodes a protein known as FAM35B, which plays a crucial role in various cellular processes.
Description
FAM35BP is located on chromosome 17q21.3 and consists of 12 exons. The gene spans over 60 kilobases and gives rise to multiple transcript variants. The protein encoded by FAM35BP, FAM35B, is highly conserved across species, indicating its essential biological function.
Associated Diseases
Studies have implicated FAM35BP mutations in several diseases, including:
- Neurological Disorders: Mutations in FAM35BP have been associated with neurodevelopmental disorders such as autism spectrum disorder and intellectual disability.
- Cardiovascular Disease: Alterations in FAM35BP have been linked to cardiac arrhythmias and dilated cardiomyopathy.
- Immunological Disorders: FAM35BP mutations have been identified in individuals with primary immunodeficiency, a condition characterized by an impaired immune system.
- Cancer: FAM35BP has been implicated in the development and progression of certain types of cancer, including breast cancer and leukemia.
Did you Know ?
According to the Human Gene Mutation Database (HGMD), over 100 pathogenic mutations have been identified in the FAM35BP gene, highlighting its significant role in human health.
