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  Domain Name: Cornifin
Cornifin (SPRR) family. SPRR genes (formerly SPR) encode a novel class of polypeptides (small proline rich proteins) that are strongly induced during differentiation of human epidermal keratinocytes in vitro and in vivo. The most characteristic feature of the SPRR gene family resides in the structure of the central segments of the encoded polypeptides that are built up from tandemly repeated units of either eight (SPRR1 and SPRR3) or nine (SPRR2) amino acids with the general consensus XKXPEPXX where X is any amino acid.
No pairwise interactions found for the domain Cornifin

Total Mutations Found: 4
Total Disease Mutations Found: 1
This domain occurred 3 times on human genes (4 proteins).



  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET


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No Conserved Features/Sites Found for Cornifin











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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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