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MCAHS4

Chr 16

phosphatidylinositol glycan anchor biosynthesis class Q

Also known as: DEE77, EIEE77, GPI1, GPIBD19, MCAHS4, c407A10.1

NCBI Gene: 9091

The protein functions as an N-acetylglucosaminyl transferase component in the complex that catalyzes the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis, transferring N-acetylglucosamine from UDP-GlcNAc to phosphatidylinositol to create glycolipid anchors that attach proteins to cell surfaces. Biallelic mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 4, which presents in the neonatal period with seizures, hypotonia, and multiple congenital anomalies. This condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)