Gene: GXYLT1

Alternate names for this Gene: GLT8D3

Gene Summary: GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010].

Gene is located in Chromosome: 12

Location in Chromosome : 12q12

Description of this Gene: glucoside xylosyltransferase 1

Type of Gene: protein-coding

rs139695917 in GXYLT1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs7965392 in GXYLT1 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.