RecName: Full=Xylosyltransferase 1; AltName: Full=Peptide O-xylosyltra - Protein

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Cytokine-mediated induction of human xylosyltransferase-I in systemic sclerosis skin fibroblasts. [Biochem Biophys Res Commun. 2021]
Cytokine-mediated induction of human xylosyltransferase-I in systemic sclerosis skin fibroblasts.
Ly TD, Kleine A, Plümers R, Fischer B, Schmidt V, Hendig D, Distler JHW, Kuhn J, Knabbe C, Faust I. Biochem Biophys Res Commun. 2021 Apr 16; 549:34-39. Epub 2021 Mar 1.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. [Am J Hum Genet. 2019]
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, et al. Am J Hum Genet. 2019 Jan 3; 104(1):35-44. Epub 2018 Dec 13.
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. [J Hum Genet. 2017]
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
Guo L, Elcioglu NH, Iida A, Demirkol YK, Aras S, Matsumoto N, Nishimura G, Miyake N, Ikegawa S. J Hum Genet. 2017 Mar; 62(3):447-451. Epub 2016 Nov 24.

RefSeq genomic sequence
See the genomic reference sequence for the XYLT1 gene (NG_015843.2).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the XYLT1 gene.

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BioSystems
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Q86Y38 [Domain Mapping of Disease Mut...]
Q86Y38
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive inherited pseudoxanthoma elasticum

MedGen
C1275116[conceptid] (1)
MedGen
Homo sapiens solute carrier family 24 member 5 (SLC24A5), mRNA
Homo sapiens solute carrier family 24 member 5 (SLC24A5), mRNA
gi|1653962062|ref|NM_205850.3|

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Protein