User:JonSDSUGrad/Sandbox/TEST9 P16INK4a
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Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), also known as CDKN2A, is a human gene.
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, MDM1, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene.[1]
[edit] References
[edit] Further reading
- Smith-Sørensen B, Hovig E (1996). "CDKN2A (p16INK4A) somatic and germline mutations.". Hum. Mutat. 7 (4): 294-303. doi: . PMID 8723678.
- Dracopoli NC, Fountain JW (1996). "CDKN2 mutations in melanoma.". Cancer Surv. 26: 115-32. PMID 8783570.
- Akita H (2003). "[Prognostic importance of altered expression of cell cycle regulators in lung cancer]". Nippon Rinsho 60 Suppl 5: 267-71. PMID 12101670.
- Kusy S, Larsen CJ, Roche J (2005). "p14ARF, p15INK4b and p16INK4a methylation status in chronic myelogenous leukemia.". Leuk. Lymphoma 45 (10): 1989-94. doi: . PMID 15370242.
- Gjerset RA (2007). "DNA damage, p14ARF, nucleophosmin (NPM/B23), and cancer.". J. Mol. Histol. 37 (5-7): 239-51. doi: . PMID 16855788.
- Yildiz IZ, Usubütün A, Firat P, et al. (2007). "Efficiency of immunohistochemical p16 expression and HPV typing in cervical squamous intraepithelial lesion grading and review of the p16 literature.". Pathol. Res. Pract. 203 (6): 445-9. doi: . PMID 17543474.