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Gene Review

CECR1  -  cat eye syndrome chromosome region,...

Homo sapiens

Synonyms: ADA2, ADGF, Adenosine deaminase CECR1, Cat eye syndrome critical region protein 1, IDGFL, ...
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Disease relevance of CECR1

  • In 20 eyes with age-related macular degeneration (ARMD), 13 fellow eyes of ARMD patients, eight eyes with central exudative chorioretinopathy (CECR), and seven unaffected eyes of CECR patients, we evaluated the light peak/dark trough ratio, and the hyperosmolarity, Diamox, and bicarbonate responses [1].

High impact information on CECR1

  • A total of 15 SMCs were endowed with detectable euchromatin (prevalence, 1/2884), including six SMCs containing the cat eye critical region (CECR) on chromosome 22q11.21 (1/7212) [2].
  • On the other hand, there are invertebrate growth factors as well as a candidate gene for the human cat eye syndrome (CECR1) (Riazi et al., 2000. Genomics 64, 277-285), which share substantial similarity to each other, and also to ADA [3].
  • Results indicate that these invertebrate proteins previously annotated as growth factors, as well as the human CECR1 gene product, may exert their actions through adenosine depletion [3].
  • In this study, we report the expression and ADA enzymatic activity of a cDNA from the salivary glands of Lutzomyia longipalpis, a blood-sucking insect, with substantial similarity to insect growth factors and to human CECR1 [3].
  • The selective deterioration of the Diamox response in CECR, but not in ARMD, can serve as a new index for differentiating between these similar conditions [1].

Analytical, diagnostic and therapeutic context of CECR1

  • 2. Using exon trapping and genomic sequence analysis, we have isolated and characterized a gene, CECR1, that maps to this critical region [4].
  • In both the CECR eyes and unaffected eyes of CECR patients, however, the Diamox response was subnormal whereas the other three EOG responses remained normal [1].


  1. Differentiation of neovascular maculopathies by nonphotic electrooculogram responses. Shirao, Y., Ushimura, S., Kawasaki, K. Jpn. J. Ophthalmol. (1997) [Pubmed]
  2. Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. Bartsch, O., Loitzsch, A., Kozlowski, P., Mazauric, M.L., Hickmann, G. Eur. J. Hum. Genet. (2005) [Pubmed]
  3. The invertebrate growth factor/CECR1 subfamily of adenosine deaminase proteins. Charlab, R., Valenzuela, J.G., Andersen, J., Ribeiro, J.M. Gene (2001) [Pubmed]
  4. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. Riazi, M.A., Brinkman-Mills, P., Nguyen, T., Pan, H., Phan, S., Ying, F., Roe, B.A., Tochigi, J., Shimizu, Y., Minoshima, S., Shimizu, N., Buchwald, M., McDermid, H.E. Genomics (2000) [Pubmed]
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