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  Domain Name: PLAT_polycystin
PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological functions remain poorly defined. In human, mutations in polycystin-1 (PKD1) and polycystin-2 (PKD2) have been shown to be the cause for autosomal dominant polycystic kidney disease (ADPKD). The generally proposed function of PLAT/LH2 domains is to mediate interaction with lipids or membrane bound proteins.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 21
Total Disease Mutations Found: 15
This domain occurred 10 times on human genes (19 proteins).



  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (ARCI2)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for PLAT_polycystin









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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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