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  Domain Name: Pat_PNPLA2
Patatin-like phospholipase domain containing protein 2. PNPLA2 plays a key role in hydrolysis of stored triacylglecerols and is also known as adipose triglyceride lipase (ATGL). Members of this family share a patain domain, initially discovered in potato tubers. ATGL is expressed in white and brown adipose tissue in high mRNA levels. Mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) leads to neutral lipid storage disease (NLSD) which is characterized by the accumulation of triglycerides in multiple tissues. ATGL mutations are also commonly associated with severe forms of skeletal- and cardio-myopathy. This family includes patatin-like proteins: TTS-2.2 (transport-secretion protein 2.2), PNPLA2 (Patatin-like phospholipase domain-containing protein 2), and iPLA2-zeta (Calcium-independent phospholipase A2) from Homo sapiens.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 22
Total Disease Mutations Found: 6
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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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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