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  Domain Name: Pat_PNPLA9
Patatin-like phospholipase domain containing protein 9. PNPLA9 is a Ca-independent phospholipase that catalyzes the hydrolysis of glycerophospholipids at the sn-2 position. PNPLA9 is also known as PLA2G6 (phospholipase A2 group VI) or iPLA2beta. PLA2G6 is stimulated by ATP and inhibited by bromoenol lactone (BEL). In humans, PNPLA9 in expressed ubiquitously and is involved in signal transduction, cell proliferation, and apoptotic cell death. Mutations in human PLA2G6 leads to infantile neuroaxonal dystrophy (INAD) and idiopathic neurodegeneration with brain iron accumulation (NBIA). This family includes PLA2G6 from Homo sapiens and Rattus norvegicus.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 12
Total Disease Mutations Found: 6
This domain occurred 2 times on human genes (4 proteins).



  KARAK SYNDROME
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
  PARKINSON DISEASE 14


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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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