Gene: XYLT1

Alternate names for this Gene: DBQD2|PXYLT1|XT-I|XT1|XTI|XYLTI|xylT-I

Gene Summary: This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.3

Description of this Gene: xylosyltransferase 1

Type of Gene: protein-coding

rs7203032 in XYLT1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs587777366 in XYLT1 gene and DESBUQUOIS DYSPLASIA 2 PMID 23982343 2014 "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."

PMID 28462984 2017 Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

PMID 24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.

rs551640889 in XYLT1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs769391314 in XYLT1 gene and Dysmorphic features PMID 24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.

PMID 28462984 2017 Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

PMID 23982343 2014 "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."

PMID 27030147 2016 Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

PMID 26601923 2016 Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.

rs77981494 in XYLT1 gene and Interleukin 7 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs4453460 in XYLT1 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.

rs74643788 in XYLT1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.