glycosylphosphatidylinositol deficiency

glycosylphosphatidylinositol deficiency

An autosomal recessive trait (OMIM:610293) characterised by an increased risk of venous thrombosis and seizures.

Molecular pathology
GPID is caused by a point mutation in the regulatory sequence of PIGM, which disrupts binding of the transcription factor SP1 to its cognate promoter motif.
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References in periodicals archive ?
2006) Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
2012) Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

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