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  Domain Name: CBS_pair
The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called Bateman domain or a CBS pair based on crystallographic studies in bacteria. The CBS pair was used as a basis for this cd hierarchy since the human CBS proteins can adopt the typical core structure and form an intramolecular CBS pair. 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 and this has been used to help in its classification here. It has been proposed that the CBS domain may play a regulatory role, although its exact function is unknown. Mutations of conserved residues within this domain are associated with a variety of human hereditary diseases, including congenital myotonia, idiopathic generalized epilepsy, hypercalciuric nephrolithiasis, and classic Bartter syndrome (CLC chloride channel family members), Wolff-Parkinson-White syndrome (gamma 2 subunit of AMP-activated protein kinase), retinitis pigmentosa (IMP dehydrogenase-1), and homocystinuria (cystathionine beta-synthase).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 58
Total Disease Mutations Found: 47
This domain occurred 12 times on human genes (33 proteins).



  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
  GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  NEPHROLITHIASIS, X-LINKED RECESSIVE
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
  RETINITIS PIGMENTOSA 10
  WOLFF-PARKINSON-WHITE SYNDROME
  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











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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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