Gene: ALG9

Alternate names for this Gene: CDG1L|DIBD1|GIKANIS|LOH11CR1J

Gene Summary: This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.1

Description of this Gene: ALG9 alpha-1,2-mannosyltransferase

Type of Gene: protein-coding

rs12363917 in ALG9 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908022 in ALG9 gene and Congenital disorder of glycosylation type 1L PMID 15945070 2005 CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

PMID 15148656 2004 Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

rs786205134 in ALG9 gene and Mesatipellic pelvis PMID 25966638 2016 A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

rs786205134 in ALG9 gene and Polycystic Kidney Diseases PMID 25966638 2016 A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

rs3867466 in ALG9 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10502148 in ALG9 gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.