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  Domain Name: Pat_PNPLA3
Patatin-like phospholipase domain containing protein 3. PNPLA3 is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes and is an indicator of the nutritional state. PNPLA3 is also known as adiponutrin (ADPN) or iPLA2-epsilon. Human adiponutrins are bound to the cell membrane of adipocytes and show transacylase, TG hydrolase, and PLA2 activity. This family includes patatin-like proteins: ADPN (adiponutrin) from mammals, PNPLA3 (Patatin-like phospholipase domain-containing protein 3), and iPLA2-epsilon (Calcium-independent phospholipase A2) from Homo sapiens.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 20
Total Disease Mutations Found: 5
This domain occurred 5 times on human genes (10 proteins).



  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
  NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
active site
nucleophile elbow














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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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