2a5e: Difference between revisions

<table><tr><td colspan='2'>[[2a5e]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2A5E OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2A5E FirstGlance]. <br>

</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2a5e FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2a5e OCA], [http://pdbe.org/2a5e PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2a5e RCSB], [http://www.ebi.ac.uk/pdbsum/2a5e PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2a5e ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/CD2A1_HUMAN CD2A1_HUMAN]] Note=The association between cutaneous and uveal melanomas in some families suggests that mutations in CDKN2A may account for a proportion of uveal melanomas. However, CDKN2A mutations are rarely found in uveal melanoma patients.  Defects in CDKN2A are the cause of cutaneous malignant melanoma type 2 (CMM2) [MIM:[http://omim.org/entry/155601 155601]]. Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.<ref>PMID:7987387</ref> <ref>PMID:8595405</ref> <ref>PMID:8653684</ref> <ref>PMID:8710906</ref> <ref>PMID:9328469</ref> <ref>PMID:9425228</ref> <ref>PMID:10651484</ref> <ref>PMID:11506491</ref> <ref>PMID:12019208</ref> <ref>PMID:10874641</ref> <ref>PMID:14646619</ref> <ref>PMID:19260062</ref>  Defects in CDKN2A are the cause of familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:[http://omim.org/entry/606719 606719]].  Defects in CDKN2A are a cause of Li-Fraumeni syndrome (LFS) [MIM:[http://omim.org/entry/151623 151623]]. LFS is a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53.<ref>PMID:10484981</ref>  Defects in CDKN2A are the cause of melanoma-astrocytoma syndrome (MASTS) [MIM:[http://omim.org/entry/155755 155755]]. The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.<ref>PMID:11136714</ref>   

[[http://www.uniprot.org/uniprot/CD2A1_HUMAN CD2A1_HUMAN]] Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.<ref>PMID:7972006</ref> <ref>PMID:16782892</ref>