Gene: C1GALT1

Alternate names for this Gene: C1GALT|T-synthase

Gene Summary: The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1-p21.3

Description of this Gene: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Type of Gene: protein-coding

rs11771259 in C1GALT1 gene and Blood Pressure PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs7787942 in C1GALT1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11771259 in C1GALT1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11771259 in C1GALT1 gene and Chronic Obstructive Airway Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs11763876 in C1GALT1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4318980 in C1GALT1 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs4318980 in C1GALT1 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.