Gene: LARGE1

Alternate names for this Gene: LARGE|MDC1D|MDDGA6|MDDGB6

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: LARGE xylosyl- and glucuronyltransferase 1

Type of Gene: protein-coding

rs9621705 in LARGE1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs117451620 in LARGE1 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs13054775 in LARGE1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs17809399 in LARGE1 gene and Diabetic Nephropathy PMID 21150874 2011 A genome-wide association study for diabetic nephropathy genes in African Americans.

rs12485060 in LARGE1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs267607209 in LARGE1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PMID 24709677 2014 Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

rs5754682 in LARGE1 gene and Major Depressive Disorder PMID 27479909 2016 Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.

rs121908675 in LARGE1 gene and Muscular Dystrophy, Congenital, Type 1D PMID 12966029 2003 Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

rs9621705 in LARGE1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs138584487 in LARGE1 gene and Transferrin saturation measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs5754753 in LARGE1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.