Search Thermo Fisher Scientific
Peptide sequence: AHIMELDVQE YEFIVLPNAY MIHMPHAPSF DITKFRSNKQ YRICLKTLKE
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Zebrafish: 100%
The LARGE 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
Protein Aliases: Acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; Alpha-1,3-xylosyltransferase LARGE1; Beta-1,3-glucuronyltransferase LARGE1; Glycosyltransferase-like protein; LARGE xylosyl- and glucuronyltransferase 1; like-acetylglucosaminyltransferase; like-glycosyltransferase; Xylosyl- and glucuronyltransferase LARGE1
Gene Aliases: KIAA0609; LARGE; LARGE1; MDC1D; MDDGA6; MDDGB6
UniProt ID: (Human) O95461
Entrez Gene ID: (Human) 9215
Molecular Function:
glycosyltransferase
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn moreGet expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support