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  Domain Name: CBS_pair_CorC_HlyC_a
This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in magnesium and cobalt efflux, and in association with some proteins of unknown function. The function of the CorC_HlyC domain is uncertain but it might be involved in modulating transport of ion substrates. 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. The second CBS domain in this CD is degenerate.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 18
Total Disease Mutations Found: 15
This domain occurred 6 times on human genes (11 proteins).



  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  HYPOMAGNESEMIA 6, RENAL
  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_CorC_HlyC_a









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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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