rs61739979
This variant is located in the LPCAT2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type IAssociationN=18Jaijo T. et al.(2006)· Human Mutation
A whole genome sequencing study of 6 Spanish family trios with early-onset sporadic Ménière disease found autosomal recessive inheritance with homozygous variants in SH3GL1 and LPCAT2 (missense SNVs) and RANBP9 and ASH2L (non-missense SNVs) in the first four trios. Autosomal dominant inheritance with de novo variants was identified in trios 5 and 6. Early-onset MD patients showed higher migraine prevalence than late-onset patients, with variable cytokine levels (CCL18, CCL3, CXCL4) across patient groups.
About LPCAT2
This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]
View all LPCAT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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