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  Domain Name: Pat_PNPLA_like
Patatin-like phospholipase domain containing protein family. Members of this family share a patain domain, initially discovered in potato tubers. PNPLA protein members show non-specific hydrolase activity with a variety of substrates such as triacylglycerol, phospholipids, and retinylesters. It contains the lipase consensus sequence (Gly-X-Ser-X-Gly). Nomenclature of PNPLA family could be misleading as some of the mammalian members of this family show hydrolase, but no phospholipase activity.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 19
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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