PLB1 Chromosome 2
Phospholipase B1
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What This Gene Does
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]
Gene Info
Gene Group
Phospholipases
Locus Type
gene with protein product
Location
2p23.2
Ensembl
ENSG00000163803
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142897830 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146498076 | Health Risk | Conflicting classifications of pathogenicity | — |