Sequence in raw or FASTA format:
LARGE like-glycosyltransferase [Homo sapiens (human)]
|Entrez Gene ID||9215|
|Synonyms||MDC1D, MDDGA6, MDDGB6|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008].|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye
|Homo sapiens (human)||LARGE||NP_004728.1|
|Pan troglodytes (chimpanzee)||LARGE||XP_001154608.1|
|Macaca mulatta (Rhesus monkey)||LARGE||XP_001113031.1|
|Canis lupus familiaris (dog)||LARGE||XP_005625982.1|
|Bos taurus (cattle)||LARGE||NP_001192517.1|
|Mus musculus (house mouse)||Large||NP_034817.1|
|Gallus gallus (chicken)||LARGE||NP_001004383.1|
|Danio rerio (zebrafish)||large||NP_001004537.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||LOC100498555||XP_002943094.2|
|GO:0006044||N-acetylglucosamine metabolic process||TAS|
|GO:0006688||glycosphingolipid biosynthetic process||TAS|
|GO:0009101||glycoprotein biosynthetic process||TAS|
|GO:0046716||muscle cell cellular homeostasis||ISS|
|GO:0030173||integral component of Golgi membrane||TAS|
|GO:0016757||transferase activity, transferring glycosyl groups||TAS|
What is the normal function of the LARGE gene?
The LARGE gene provides instructions for making a protein that is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the LARGE 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.
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