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EC Number	General Information	Commentary	Reference
2.4.2.61	malfunction	enzyme defects cause Walker-Warburg syndrome	758731
2.4.2.61	physiological function	TMEM5 is a xylosyltransferase that forms the Xyl-beta-1,4-ribitol 5-phosphate linkage on O-mannosyl glycan. Disruption of the TMEM5 gene abrogates the elongation of the (3-GlcA-beta-1,3-Xyl-alpha-1-) unit on O-mannosyl glycan	751071
2.4.2.61	physiological function	TMEM5 mutations are frequently associated with gonadal dysgenesis and neural tube defects	749531

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Release 2023.1 (January 2023)