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  Domain Name: Membr_traf_MHD
Munc13 (mammalian uncoordinated) homology domain. Munc13 proteins constitute a family of three highly homologous molecules (Munc13-1, Munc13-2 and Munc13-3) with homology to Caenorhabditis elegans unc-13p. Munc13 proteins contain a phorbol ester-binding C1 domain and two C2 domains, which are Ca2+/phospholipid binding domains. Sequence analyses have uncovered two regions called Munc13 homology domains 1 (MHD1) and 2 (MHD2) that are arranged between two flanking C2 domains. MHD1 and MHD2 domains are present in a wide variety of proteins from Arabidopsis thaliana, C. elegans, Drosophila melanogaster, mouse, rat and human, some of which may function in a Munc13-like manner to regulate membrane trafficking. The MHD1 and MHD2 domains are predicted to be alpha-helical.
No pairwise interactions found for the domain Membr_traf_MHD

Total Mutations Found: 2
Total Disease Mutations Found: 1
This domain occurred 5 times on human genes (14 proteins).



  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3


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   Protein ID            Protein Position

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No Conserved Features/Sites Found for Membr_traf_MHD










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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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