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Results in mouse suggest that this is the only gene from the Down Syndrome Critical Region expressed in the developing tongue and that the encoded protein may be involved in pathophysiology of tongue malformation seen in Down syndrome.
This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.
Down syndrome critical region gene 5
, phosphatidylinositol N-acetylglucosaminyltransferase subunit P
, phosphatidylinositol glycan, class P
, phosphatidylinositol-glycan biosynthesis class P protein
, phosphatidylinositol glycan anchor biosynthesis, class P
, Down syndrome critical region protein 5
, Down syndrome critical region protein C
, phosphatidylinositol-n-acetylglucosaminyltranferase subunit
, Down syndrome critical region gene c
, Down syndrome critical region homolog 5
, down syndrome critical region protein 5 homolog