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Sequence in raw or FASTA format:

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LARGE like-glycosyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004737 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
NM_133642 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
XM_005261831 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005261832 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724375 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

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Gene Symbol LARGE
Entrez Gene ID 9215
Full Name like-glycosyltransferase
Synonyms MDC1D, MDDGA6, MDDGB6
General protein information
Preferred Names
glycosyltransferase-like protein LARGE1
Names
glycosyltransferase-like protein LARGE1
like-acetylglucosaminyltransferase
acetylglucosaminyltransferase-like 1A
acetylglucosaminyltransferase-like protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q12.3

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].
Disorder

MIM: 603590

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

mRNA Protein Product Sequence Price Select
NM_004737, 189083833 NP_004728, 4758664 glycosyltransferase-like protein LARGE1 ORF Sequence $490.00
NM_133642, 189083834 NP_598397, 19924141 glycosyltransferase-like protein LARGE1 ORF Sequence $490.00
XM_005261831, 530420562 XP_005261888, 530420563 glycosyltransferase-like protein LARGE1 isoform X1 ORF Sequence $700.00
XM_005261832, 530420564 XP_005261889, 530420565 glycosyltransferase-like protein LARGE1 isoform X2 ORF Sequence $700.00
XM_006724375, 578837525 XP_006724438, 578837526 glycosyltransferase-like protein LARGE1 isoform X3 ORF Sequence $700.00
Homo sapiens (human)LARGENP_004728.1
Pan troglodytes (chimpanzee)LARGEXP_001154608.1
Macaca mulatta (Rhesus monkey)LARGEXP_001113031.1
Canis lupus familiaris (dog)LARGEXP_005625982.1
Bos taurus (cattle)LARGENP_001192517.1
Mus musculus (house mouse)LargeNP_034817.1
Gallus gallus (chicken)LARGENP_001004383.1
Danio rerio (zebrafish)largeNP_001004537.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100498555XP_002943094.2
Process
IDNameEvidence
GO:0006044N-acetylglucosamine metabolic processTAS
GO:0006486protein glycosylationIEA
GO:0006688glycosphingolipid biosynthetic processTAS
GO:0009101glycoprotein biosynthetic processTAS
GO:0046716muscle cell cellular homeostasisISS
Component
IDNameEvidence
GO:0030173integral component of Golgi membraneTAS
Function
IDNameEvidence
GO:0008375acetylglucosaminyltransferase activityTAS
GO:0016757transferase activity, transferring glycosyl groupsTAS
GeneCards LARGE
UniProt X5DR28, O95461
Vega OTTHUMG00000150914
MIM 603590
Ensembl ENSG00000133424
HGNC 6511
HPRD 04665

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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