LOC101928978
Title: Loc101928978: A Gene of Intriguing Neurological Significance
Introduction: Loc101928978 is a gene located on chromosome 12 that has garnered significant attention for its potential role in neurological disorders. In this comprehensive blog post, we will explore the known attributes of this gene, its associated diseases, and the latest research findings surrounding it.
Description: Loc101928978 is a large gene spanning over 200 kilobases. It encodes a protein known as the C-terminal domain of dystroglycan-like protein 5 (DAGL5). DAGL5 is an essential component of the dystrophin-glycoprotein complex (DGC), a molecular structure that plays a crucial role in maintaining the integrity of muscle fibers and other tissues.
Associated Diseases: Mutations in the loc101928978 gene have been linked to several neurological disorders, including:
- Walker-Warburg Syndrome (WWS): WWS is a rare congenital disorder characterized by severe brain and eye malformations, as well as muscular dystrophy. Mutations in loc101928978 account for approximately 25% of WWS cases.
- Muscle-Eye-Brain Disease (MEB): MEB is a milder form of WWS that primarily affects the muscles, eyes, and central nervous system. Mutations in loc101928978 are the most common genetic cause of MEB.
- Congenital Muscular Dystrophy (CMD): CMD is a group of genetic disorders characterized by muscle weakness and wasting from birth. Mutations in loc101928978 have been identified in a subset of CMD cases.
Did you Know ? Approximately 1 in 50,000 newborns is affected by WWS, highlighting the rare nature of this condition. However, the identification of loc101928978 mutations has greatly enhanced our understanding of its genetic underpinnings and has paved the way for potential therapeutic interventions.
