PXYLP1


Description

The PXYLP1 (2-phosphoxylose phosphatase 1) is a protein-coding gene located on chromosome 3.

PXYLP1, also known as 2-phosphoxylose phosphatase 1, plays a crucial role in regulating the formation of mature glycosaminoglycan (GAG) chains within proteoglycans. Specifically, it removes the phosphate group from xylose residues located in the linkage region between GAGs and core proteins. This dephosphorylation step is essential for the efficient initiation and elongation of the repeating disaccharide units that make up GAG chains. The linkage region, consisting of the sequence GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser, is established through the sequential addition of monosaccharides by specific glycosyltransferases. PXYLP1's activity ensures the correct formation of this linkage region, which is critical for the synthesis of GAGs like heparan sulfate and chondroitin sulfate.

PXYLP1 is also known as ACPL2, HEL124, XYLP.

Associated Diseases



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