User:Etienne Robillard/Notebook/Cat eye syndrome

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(Add reference for CAMK2G/PD pathology relevance)
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* Litterature review: http://www.omim.org/entry/115470
* Litterature review: http://www.omim.org/entry/115470
* related to chromosome 22q11
* related to chromosome 22q11
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* for PD (Score 8.991) and BPA, see also gene [http://www.uniprot.org/uniprot/Q13555 CAMK2G (KCC2G)] - also known as chromosome 22q10. [1] [2]
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=== References ===
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# http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G
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# http://www.sciencedaily.com/releases/2013/02/130225153122.htm?utm_source=dlvr.it&utm_medium=twitter

Revision as of 19:56, 28 February 2013

Notes

  • EC 3.5.4.4 ref
  • also named Adenosine deaminase CECR1
  • Uniprot accession number Q9NZK5
  • reaction type -> deamination
  • tissues: brain, liver, thymus...
  • Litterature review: http://www.omim.org/entry/115470
  • related to chromosome 22q11
  • for PD (Score 8.991) and BPA, see also gene CAMK2G (KCC2G) - also known as chromosome 22q10. [1] [2]

References

  1. http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G
  2. http://www.sciencedaily.com/releases/2013/02/130225153122.htm?utm_source=dlvr.it&utm_medium=twitter
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