XYLT1 (Entrez ID: 64131)

Entrez Gene ID	64131
Official Gene Symbol	XYLT1 (GeneCards)
Full name	xylosyltransferase 1
Location	16p12.3
Other ids	Vega : OTTHUMG00000129975 MIM : 608124 HGNC : HGNC:15516 Ensembl : ENSG00000103489
Other names	XT1, XTI, XT-I, DBQD2, XYLTI, PXYLT1, xylT-I
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.[provided by RefSeq, Nov 2009]

Variants

Found 13 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
19346	64131	XYLT1	16	17815828	17815828	Asymptomatic	HiSeq X Ten
19373	64131	XYLT1	16	17278181	17278181	Asymptomatic	HiSeq X Ten HiSeq 2000
19374	64131	XYLT1	16	17527116	17527116	Asymptomatic	HiSeq X Ten HiSeq 2000
19433	64131	XYLT1	16	17935535	17935535	Asymptomatic	HiSeq X Ten HiSeq 2000
19447	64131	XYLT1	16	17996897	17996897	Asymptomatic	HiSeq X Ten HiSeq 2000
19599	64131	XYLT1	16	17872947	17872947	Asymptomatic	HiSeq X Ten HiSeq 2000
19629	64131	XYLT1	16	17389142	17389142	Asymptomatic	HiSeq X Ten HiSeq 2000
19632	64131	XYLT1	16	17536514	17536514	Asymptomatic	HiSeq X Ten HiSeq 2000
19703	64131	XYLT1	16	17527099	17527099	Cockayne syndrome	HiSeq X Ten HiSeq 2000
19721	64131	XYLT1	16	18145919	18145919	Cockayne syndrome	HiSeq X Ten HiSeq 2000
19736	64131	XYLT1	16	18117247	18117247	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
23859	64131	XYLT1	16	18163819	18163819	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
28164	64131	XYLT1	16	17755978	17755978	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning