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  Domain Name: Pat_PNPLA1
Patatin-like phospholipase domain containing protein 1. Members of this family share a patatin domain, initially discovered in potato tubers. Some members of PNPLA1 subfamily do not have the lipase consensus sequence Gly-X-Ser-X-Gly which is essential for hydrolase activity. This family includes PNPLA1 from Homo sapiens and Gallus gallus. Currently, there is no literature available on the physiological role, structure, or enzymatic activity of PNPLA1. It is expressed in various human tissues in low mRNA levels.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 31
Total Disease Mutations Found: 7
This domain occurred 5 times on human genes (10 proteins).



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


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 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



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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