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Target intelligence / Profile preview
2-phosphoxylose phosphatase 1 (PXYLP1)
- Target
- PXYLP1
- Molecular classification
- Enzyme, Phosphatase, Acid phosphatase-like protein
01
Overview
2-phosphoxylose phosphatase 1 (PXYLP1) is a phosphatase enzyme localized to the Golgi apparatus, responsible for removing phosphate at the 2-position of xylose in the glycosaminoglycan-protein linkage region of proteoglycans. This activity enables efficient elongation of glycosaminoglycan chains—especially chondroitin sulfate and heparan sulfate—by facilitating the addition of repeating disaccharide units. Mutations or deficiencies in PXYLP1 are associated with connective tissue disorders such as Ehlers-Danlos syndrome and skeletal dysplasias due to disruption in proteoglycan structure and function.
- Other names
- Acid phosphatase-like protein 2ACPL2HEL124XYLPUNQ370/PRO706FLJ23751epididymis luminal protein 124xylosyl phosphatase
02
Mechanism of action
Mechanism is enzymatic dephosphorylation in glycosaminoglycan metabolism.
03
Biological functions
Glycosaminoglycan biosynthetic processChondroitin sulfate proteoglycan biosynthetic processPositive regulation of heparan sulfate proteoglycan biosynthetic process2-O-dephosphorylation of xylose in proteoglycans
04
Disease associations
Ehlers-Danlos syndrome, musculocontractural type 2Spondyloepiphyseal dysplasia with congenital joint dislocations
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