Gene: LOC102723692

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.3

Description of this Gene: uncharacterized LOC102723692

Type of Gene: ncRNA

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

rs587777367 in LOC102723692;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 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.