GPI ethanolamine phosphate transferase 3
Definition:
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond.
References:
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[1]. Ichiro Kuki, et al. Vitamin B6-responsive epilepsy due to inherited GPI deficiency. Neurology. 2013 Oct 15;81(16):1467-9. [Content Brief]
[2]. Junpei Tanigawa, et al. Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. Hum Mutat. 2017 Jul;38(7):805-815. [Content Brief]
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