Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
Glycosylphosphatidylinositol biosynthesis defect 18
GPIBD18
An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features.
None
The disease is caused by variants affecting the gene represented in this entry.
Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Belongs to the PIGS family.
UNQ1873/PRO4316, PIGS, GPI transamidase component PIG-S, Phosphatidylinositol-glycan biosynthesis class S protein
Proteins
Immunology & Infectious Disease
61656Da
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