The protein produced from the LARGE1 gene is found in a specialized structure within cells called the Golgi apparatus, where newly produced proteins are modified. The LARGE1 protein is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the LARGE1 protein adds chains of sugar molecules composed of xylose and glucuronic acid to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Other Names
acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; glycosyltransferase-like protein LARGE1; KIAA0609; LARGE; LARGE_HUMAN; like-acetylglucosaminyltransferase; like-glycosyltransferase; MDC1D; MDDGA6; MDDGB6
Related Genetics Topics
Identifiers
- NCBI Gene: 9215
- OMIM: 603590
- OMIM: 608840
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
