LARGE1 (Entrez ID: 9215)

Entrez Gene ID	9215
Official Gene Symbol	LARGE1 (GeneCards)
Full name	LARGE xylosyl- and glucuronyltransferase 1
Location	22q12.3
Other ids	Vega : OTTHUMG00000150914 MIM : 603590 HGNC : HGNC:6511 Ensembl : ENSG00000133424
Other names	LARGE, MDC1D, MDDGA6, MDDGB6
Summary	This gene 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. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

Variants

Found 33 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
21818	9215	LARGE	22	33734826	33734826	Asymptomatic	HiSeq X Ten
21819	9215	LARGE	22	34216019	34216019	Asymptomatic	HiSeq X Ten
21833	9215	LARGE	22	34341496	34341496	Asymptomatic	HiSeq X Ten HiSeq 2000
21834	9215	LARGE	22	34201594	34201594	Asymptomatic	HiSeq X Ten HiSeq 2000
21835	9215	LARGE	22	34618777	34618777	Asymptomatic	HiSeq X Ten HiSeq 2000
21864	9215	LARGE	22	34887454	34887454	Asymptomatic	HiSeq X Ten HiSeq 2000
21872	9215	LARGE	22	34932050	34932050	Asymptomatic	HiSeq X Ten HiSeq 2000
21875	9215	LARGE	22	34154041	34154041	Asymptomatic	HiSeq X Ten HiSeq 2000
21888	9215	LARGE	22	35202213	35202213	Asymptomatic	HiSeq X Ten HiSeq 2000
21903	9215	LARGE	22	34415407	34415407	Asymptomatic	HiSeq X Ten HiSeq 2000
21942	9215	LARGE	22	34635756	34635756	Asymptomatic	HiSeq X Ten HiSeq 2000
21950	9215	LARGE	22	34053697	34053697	Asymptomatic	HiSeq X Ten HiSeq 2000
21955	9215	LARGE	22	35103970	35103970	Asymptomatic	HiSeq X Ten HiSeq 2000
21960	9215	LARGE	22	34268849	34268849	Asymptomatic	HiSeq X Ten HiSeq 2000
21962	9215	LARGE	22	35045325	35045325	Cockayne syndrome	HiSeq X Ten HiSeq 2000
21963	9215	LARGE	22	34476836	34476836	Cockayne syndrome	HiSeq X Ten HiSeq 2000
21964	9215	LARGE	22	35130152	35130152	Cockayne syndrome	HiSeq X Ten HiSeq 2000
21969	9215	LARGE	22	34777342	34777342	Cockayne syndrome	HiSeq X Ten HiSeq 2000
21989	9215	LARGE	22	35280599	35280599	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
21990	9215	LARGE	22	34944955	34944955	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
21992	9215	LARGE	22	34288901	34288901	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
24119	9215	LARGE	22	34614883	34614883	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24124	9215	LARGE	22	34365878	34365878	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24131	9215	LARGE	22	33681601	33681601	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24132	9215	LARGE	22	33746379	33746379	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24133	9215	LARGE	22	34063195	34063195	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24134	9215	LARGE	22	34591241	34591241	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
28716	9215	LARGE	22	34821656	34821656	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
28730	9215	LARGE	22	34642193	34642193	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
28732	9215	LARGE	22	34642193	34642193	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
28737	9215	LARGE	22	35035195	35035195	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
28738	9215	LARGE	22	34289537	34289537	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
28749	9215	LARGE	22	34355195	34355195	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning