Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.
Function:
Selectively cleaves DNA at the second phosphodiester bond 3' to hypoxanthine- and uracil-containing nucleotides. Shows higher activity towards single-stranded than double-stranded DNA and towards hypoxanthine than uracil.
Tissue Specificity:
Highest levels detected in liver with high levels also found in heart, kidney and testis. Expressed at low levels in brain.
Similarity:
Belongs to the endonuclease V family.
SWISS:
Q8C9A2
Gene ID:
338371
Database links:
Entrez Gene: 338371 Mouse
SwissProt: Q8C9A2 Mouse
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