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  Domain Name: CBS_pair_GGDEF_assoc
This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in association with the GGDEF (DiGuanylate-Cyclase (DGC)) domain. The GGDEF domain has been suggested to be homologous to the adenylyl cyclase catalytic domain and is thought to be involved in regulating cell surface adhesiveness in bacteria. CBS is a small domain originally identified in cystathionine beta-synthase and subsequently found in a wide range of different proteins. CBS domains usually come in tandem repeats, which associate to form a so-called Bateman domain or a CBS pair which is reflected in this model. The interface between the two CBS domains forms a cleft that is a potential ligand binding site. The CBS pair coexists with a variety of other functional domains. It has been proposed that the CBS domain may play a regulatory role, although its exact function is unknown.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 37
Total Disease Mutations Found: 35
This domain occurred 3 times on human genes (13 proteins).



  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  RETINITIS PIGMENTOSA 10
  WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for CBS_pair_GGDEF_assoc







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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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