Ribitol-5-phosphate xylosyltransferase is an enzyme encoded by RXYLT1 gene.
Gene RXYLT1 is located on the long arm (q) of chromosome 12 on position 14.2, from base pair 63,779,833 to base pair 63,809,792.
Function This enzyme is located in the golgi apparatus, and serves as a ribitol b1,4-xylosyltransferase for dystroglycan.
Clinical significance Mutations in this gene can cause Muscle-eye-brain disease and Walker-Warburg syndrome.
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