LARGE1 : LARGE xylosyl- and glucuronyltransferase 1
Description
LARGE1, also known as LARGE glycosyltransferase 1, is a gene that encodes a crucial enzyme involved in the synthesis of certain types of complex sugar molecules called glycosaminoglycans (GAGs). These GAGs are crucial components of the extracellular matrix, providing structural support and mediating cell-cell interactions. LARGE1 is expressed in various tissues, particularly in the brain, heart, and skeletal muscle. Its primary function is to add specific sugar moieties to other proteins, influencing their structure, function, and interactions. Mutations in the LARGE1 gene can lead to a range of developmental and degenerative disorders.
Associated Diseases
- Muscular dystrophies (including α-dystroglycanopathy, Fukuyama congenital muscular dystrophy, and Walker-Warburg syndrome)
- Congenital disorders of glycosylation (CDG)
- Neurodevelopmental disorders
- Cancer (role in tumor growth and metastasis)
Did you know?
The LARGE1 gene is highly conserved across different species, suggesting its essential role in biological processes.
