User:Tkadm30/Notebook/Cat eye syndrome: Difference between revisions
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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 | ||
* 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] | |||
=== References === | |||
# http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G | |||
# http://www.sciencedaily.com/releases/2013/02/130225153122.htm?utm_source=dlvr.it&utm_medium=twitter | |||
Revision as of 16:56, 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]
