rs115240682
This variant is located in the PLB1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal FunctionCase reportAngel C. Y. Mak et al.(2014)· JAMA Neurology
This case report describes a 40-year-old African American man with homozygous apolipoprotein E (APOE) deficiency caused by a frameshift mutation (c.291delG, p.E97fs). Despite complete absence of apoE protein, the patient exhibited normal neurocognitive function, normal retinal function, normal brain MRI, and normal cerebrospinal fluid biomarkers (Aβ42=829 pg/mL, total tau=165 pg/mL, p-tau181=43.4 pg/mL). He had severe dysbetalipoproteinemia with total cholesterol of 760 mg/dL and multiple xanthomas, but no neurodegenerative disease.
About PLB1
This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]
View all PLB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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