| Modification Notes |
MAC30, also known as TMEM97 (transmembrane protein 97), is a 176 amino acid multi-pass membrane protein that is widely expressed in normal tissues and is upregulated in pancreatic, renal, breast, colon and meningioma cancers, suggesting a role in tumorigenesis. The gene encoding MAC30 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes 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. |