XYLT2

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. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

Description

Xylosyltransferase 2

Tissue specificity

Tissue enriched (stomach)

Predicted location

Intracellular, Secreted to blood

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17:q21.33 (50346126 - 50363138)

Ensembl ID

ENSG00000015532  (ver. 103.38)

Orthologs

Mouse Xylt2: ENSMUSG00000020868

UniProt

Q9H1B5

neXtProt

NX_Q9H1B5

Human splice variants
Mouse splice variants