PNPLA2 (NP_065109, 347 a.a. ~ 446 a.a) partial recombinant protein with GST tag. The sequence is SFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLP SVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLG
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy.
Pathway
Acyl chain remodeling of DAG and TAG; Acylglycerol degradation; Glycerolipid metabolism; Glycerophospholipid biosynthesis
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