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  Domain Name: ACD_HspB9_like
Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB9 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. Human (h) HspB9 is expressed exclusively in the normal testis and in various tumor samples and is a cancer/testis antigen. hHspB9 interacts with TCTEL1 (T-complex testis expressed protein -1), a subunit of dynein. hHspB9 and TCTEL1 are co-expressed in similar cells within the testis and in tumor cells. Included in this group is Xenopus Hsp30, a developmentally-regulated heat-inducible molecular chaperone.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 13
Total Disease Mutations Found: 13
This domain occurred 7 times on human genes (10 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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   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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