Gene: CSGALNACT1

Alternate names for this Gene: CSGalNAcT-1|ChGn|ChGn-1|SDJLABA|beta4GalNAcT

Gene Summary: This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.3

Description of this Gene: chondroitin sulfate N-acetylgalactosaminyltransferase 1

Type of Gene: protein-coding

rs117494579 in CSGALNACT1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs138400467 in CSGALNACT1 gene and Forced expiratory volume function PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

rs10100391 in CSGALNACT1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs7825914 in CSGALNACT1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs10107533 in CSGALNACT1 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.