Glycosyltransferase-like protein LARGE1 is an enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 that in humans is encoded by the LARGE gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

Function

This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The function of this gene has not yet been established; however, it may involve a role in tumor-specific genomic rearrangements. Mutations in this gene may be involved in the development and progression of meningioma through modification of ganglioside composition and other glycosylated molecules in tumor cells. Alternative splicing of this gene results in two transcript variants that encode the same protein.

External Links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview