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  Domain Name: ACD_HspB7_like
Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers consisting of multiple subunits. HspB7 is a 25-kDa protein, preferentially expressed in heart and skeletal muscle. It binds the cytoskeleton protein alpha-filamin (also known as actin-binding protein 280). The expression of HspB7 is increased during rat muscle aging. Its expression is also modulated in obesity implicating this protein in this and related metabolic disorders. As the human gene encoding HspB7 is mapped to chromosome 1p36.23-p34.3 it is a positional candidate for several dystrophies and myopathies.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 13
Total Disease Mutations Found: 13
This domain occurred 5 times on human genes (8 proteins).



  CATARACT 16, CONGENITAL LAMELLAR
  CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
  CATARACT 9, NUCLEAR, WITH MICROCORNEA
  CATARACT 9, TOTAL
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, INCLUDED
  MYOPATHY, MYOFIBRILLAR, 2
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
putative dimer interface










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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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