1dc2: Difference between revisions
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{{STRUCTURE_1dc2| PDB=1dc2 | SCENE= }} | {{STRUCTURE_1dc2| PDB=1dc2 | SCENE= }} | ||
===SOLUTION NMR STRUCTURE OF TUMOR SUPPRESSOR P16INK4A, 20 STRUCTURES=== | |||
{{ABSTRACT_PUBMED_10892805}} | |||
== | ==Disease== | ||
[[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> | |||
==Function== | |||
[[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> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010892805</ref><references group="xtra"/> | <ref group="xtra">PMID:010892805</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Byeon, I J.L.]] | [[Category: Byeon, I J.L.]] | ||
