background:
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-Dubé syndrome and Canavan disease are also associated with chromosome 17.
Subcellular Location:
Endoplasmic reticulum. Nucleus envelope.
Similarity:
Belongs to the GH3 family.
Database links:
UniProtKB/Swiss-Prot: Q8N2G8.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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