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  Domain Name: ACD_sHsps_p23-like
This domain family includes the alpha-crystallin domain (ACD) of alpha-crystallin-type small heat shock proteins (sHsps) and a similar domain found in p23-like proteins. sHsps are small stress induced proteins with monomeric masses between 12 -43 kDa, whose common feature is this ACD. sHsps are generally active as large oligomers consisting of multiple subunits, and are believed to be ATP-independent chaperones that prevent aggregation and are important in refolding in combination with other Hsps. p23 is a cochaperone of the Hsp90 chaperoning pathway. It binds Hsp90 and participates in the folding of a number of Hsp90 clients including the progesterone receptor. p23 also has a passive chaperoning activity. p23 in addition may act as the cytosolic prostaglandin E2 synthase. Included in this family is the p23-like C-terminal CHORD-SGT1 (CS) domain of suppressor of G2 allele of Skp1 (Sgt1) and the p23-like domains of human butyrate-induced transcript 1 (hB-ind1), NUD (nuclear distribution) C, Melusin, and NAD(P)H cytochrome b5 (NCB5) oxidoreductase (OR).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 16
Total Disease Mutations Found: 13
This domain occurred 13 times on human genes (21 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:  


No Conserved Features/Sites Found for ACD_sHsps_p23-like










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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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