rs121434489

This is a stop gained variant in the PAFAH1B1 gene.

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ClinVar annotation

Pathogenic★★★☆

6 submitters7 publications

Intellectual disability; Lissencephaly; Lissencephaly due to LIS1 mutation (LIS1); Subcortical band heterotopia (SBH)

About PAFAH1B1

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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