p14arf

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This article is about a tumor suppressor gene. For ARF small GTP-binding protein, see ADP ribosylation factor.
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
Identifiers
Symbol CDKN2A
Alt. symbols CDKN2, MLM
Entrez 1029
HUGO 1787
OMIM 600160
RefSeq NM_000077
UniProt P42771
Other data
Locus Chr. 9 p21

p14ARF is an alternate reading frame (ARF) product of the CDKN2A locus. Both p16INK4a and p14ARF are involved in cell cycle regulation. p14ARF inhibits mdm2, thus promoting p53, which promotes p21 activation, which then binds and inactivates certain cyclin-CDK complexes, which would otherwise promote transcription of genes that would carry the cell through the G1/S checkpoint of the cell cycle. Loss of p14ARF by a homozygous mutation in the CDKN2A (INK4A) gene will lead to elevated levels in mdm2 and, therefore, loss of p53 function and cell cycle control.

The equivalent in mice is p19ARF.

Clinical significance[edit]

Homozygous deletions and other mutations of CDK2NA (ARF) have been found to be associated with glioblastoma.[1]

See also[edit]

References[edit]

  1. ^ Cancer Genome Atlas Research, Network (Oct 23, 2008). "Comprehensive genomic characterization defines human glioblastoma genes and core pathways.". Nature 455 (7216): 1061–8. doi:10.1038/nature07385. PMC 2671642. PMID 18772890. 

2.^ Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, Tamura D, Wattendorf D, Busch D, Brewer CC, Zalewski C, Butman JA, Griffith AJ, Meltzer PS, Kraemer KH..Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.Hum Mutat. 2013 May 9. doi: 10.1002/humu.22354. [Epub ahead of print]

External links[edit]