XYLT2

Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.^[5][6]

XYLT2
Identifiers
Aliases	XYLT2, PXT-II, XT2, xylT-II, SOS, xylosyltransferase 2
External IDs	OMIM: 608125; MGI: 2444797; HomoloGene: 23349; GeneCards: XYLT2; OMA:XYLT2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.33 Start 50,346,126 bp[1] End 50,363,138 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D Start 94,554,677 bp[2] End 94,568,341 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of stomach fundus stromal cell of endometrium left testis apex of heart right testis right uterine tube right ovary granulocyte prostate Top expressed in right kidney lip tail of embryo primary visual cortex neural layer of retina ventricular zone superior frontal gyrus dentate gyrus of hippocampal formation granule cell stroma of bone marrow genital tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity acetylglucosaminyltransferase activity glycosyltransferase activity protein xylosyltransferase activity magnesium ion binding manganese ion binding metal ion binding Cellular component integral component of membrane Golgi apparatus endoplasmic reticulum membrane endoplasmic reticulum membrane Golgi membrane cellular component extracellular space extracellular region Biological process chondroitin sulfate biosynthetic process chondroitin sulfate proteoglycan biosynthetic process heparan sulfate proteoglycan biosynthetic process heparin biosynthetic process glycosaminoglycan biosynthetic process proteoglycan biosynthetic process glycosaminoglycan metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64132 217119 Ensembl ENSG00000015532 ENSMUSG00000020868 UniProt Q9H1B5 Q9EPL0 RefSeq (mRNA) NM_022167 NM_145828 RefSeq (protein) NP_071450 NP_665827 Location (UCSC) Chr 17: 50.35 – 50.36 Mb Chr 11: 94.55 – 94.57 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate.^[6]

Clinical significance

The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis.^[6]

Mutations in this gene have been shown to be the cause of the spondylo-ocular syndrome.^[7] It has also been implicated as cofactor in pseudoxanthoma elasticum.