DISEASES

Disease-gene associations mined from literature

Literature on PXYLP1

PXYLP1 [ENSP00000286353]

2-phosphoxylose phosphatase 1; Responsible for the 2-O-dephosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature glycosaminoglycan (GAG) chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG- protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-dephosphorylation during completion of linkage region formation is a prerequisite for the initiation and efficient elongation of the repeating disaccharide region of GAG chains.

Synonyms:  PXYLP1,  PXYLP1p,  hPXYLP1,  A0A1B0GUH7,  A0A1B0GWB5 ...

Linkouts:  STRING  Pharos  UniProt