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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

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Gene Symbol LARGE
Entrez Gene ID 9215
Full Name like-glycosyltransferase
Synonyms KIAA0609, MDC1D, MDDGA6, MDDGB6
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
Homo sapiens (human)LARGENP_004728.1
Pan troglodytes (chimpanzee)LARGEXP_001154608.1
Macaca mulatta (Rhesus monkey)LARGEXP_001112944.1
Canis lupus familiaris (dog)LARGEXP_531751.3
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
GeneCards LARGE
UniProt O95461
MIM 603590
Ensembl ENSG00000133424
HGNC 6511
HPRD 04665

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

General protein information

Preferred Names
glycosyltransferase-like protein LARGE1
Names
glycosyltransferase-like protein LARGE1
like-acetylglucosaminyltransferase
acetylglucosaminyltransferase-like 1A
acetylglucosaminyltransferase-like protein

Interactant



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