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Gene Review

CNTNAP3  -  contactin associated protein-like 3

Homo sapiens

Synonyms: CASPR3, CNTNAP3A, Cell recognition molecule Caspr3, Contactin-associated protein-like 3, FLJ14195, ...
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Disease relevance of CNTNAP3


High impact information on CNTNAP3


Biological context of CNTNAP3

  • Characterization of the chromosome 9q13 breakpoint indicated a disruption in the 5' region of CNTNAP3 within BAC RP11-292B8 [1].

Analytical, diagnostic and therapeutic context of CNTNAP3


  1. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Boyadjiev, S.A., South, S.T., Radford, C.L., Patel, A., Zhang, G., Hur, D.J., Thomas, G.H., Gearhart, J.P., Stetten, G. Genomics (2005) [Pubmed]
  2. Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains. Spiegel, I., Salomon, D., Erne, B., Schaeren-Wiemers, N., Peles, E. Mol. Cell. Neurosci. (2002) [Pubmed]
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