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p16 GENE
 Also
known as CDKN2A, INK4A,
or MTS1, the p16 gene is located on chromosome 9p21 and accounts for approximately
20%-40% of hereditary
melanoma cases. p16 is a tumor
suppressor gene
that regulates cellular proliferation and growth by acting as a cyclin-dependent
kinase 4 (CDK4) inhibitor.
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The p16 gene
controls cellular proliferation and growth.
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As such, a mutation
in either copy of the gene
can act to disrupt normal gene function leading to unregulated
cell growth. The p16 gene is composed of three exons (471 base pairs)
that encodes a 156 amino acid protein. Mutations are found to
occur within the coding sequence, splicing, and promoter regions
of the gene. While the p16 gene accounts
for the majority of known genetic causes of inherited melanoma
cases, other genes such as CDK4 and p14ARF may
account for a handful (<1%)
of hereditary melanoma cases. Unknown or as yet unidentified genes
account for the remainder of hereditary melanoma cases.
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