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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

CDHR1  -  cadherin-related family member 1

Homo sapiens

Synonyms: CORD15, Cadherin-related family member 1, KIAA1775, PCDH21, PRCAD, ...
 
 
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Disease relevance of PCDH21

  • CONCLUSIONS: PCDH21 mutations are not a major cause of the retinal diseases investigated herein, and the corresponding human phenotype remains to be determined [1].
  • RESULTS: PCDH21 spans 23 kb, consists of 17 exons, and encodes a protein that shows close phylogenetic relationship to cadherin-23 (CDH23), the protein involved in Usher syndrome type 1D [1].
 

High impact information on PCDH21

  • In ACTH+, beside the expected POMC gene, we identified cFos, and KIAA1775, a large expressed sequence tag encoding a putative protocadherin-related protein [2].
  • Therefore we searched for a human retinal phenotype associated with mutations in the orthologous human gene, PCDH21 [1].
  • PURPOSE: It has been demonstrated that mice lacking a functional copy of prCAD, the gene encoding protocadherin-21, show progressive photoreceptor degeneration [1].

References

  1. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. Bolz, H., Ebermann, I., Gal, A. Mol. Vis. (2005) [Pubmed]
  2. Identification of genes associated with the corticotroph phenotype in bronchial carcinoid tumors. Pascual-Le Tallec, L., Dulmet, E., Bertagna, X., de Keyzer, Y. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
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