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  Domain Name: Pat_PNPLA5-mammals
Patatin-like phospholipase domain containing protein 5. PNPLA5, also known as GS2L (GS2-like), plays a role in regulation of adipocyte differentiation. PNPLA5 is expressed in brain tissue in high mRNA levels and low levels in liver tissue. There is no concrete evidence in support of the enzymatic activity of GS2L. This family includes patatin-like proteins: GS2L (GS2-like) and PNPLA5 (Patatin-like phospholipase domain-containing protein 5) reported exclusively in mammals.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 29
Total Disease Mutations Found: 7
This domain occurred 4 times on human genes (9 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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