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. The FAM134C gene product has been provisionally designated FAM134C pending further characterization.
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential).
Similarity:
Belongs to the FAM134 family.
SWISS:
Q86VR2
Gene ID:
162427
Database links:
Entrez Gene: 162427 Human
Entrez Gene: 67998 Mouse
SwissProt: Q86VR2 Human
SwissProt: Q9CQV4 Mouse
Unigene: 632262 Human
Unigene: 33881 Mouse
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Sample: Liver (Mouse) Lysate at 40 ug
Primary: Anti-FAM134C (SL8153R) at 1/300 dilution
Secondary: HRP conjugated Goat-Anti-rabbit IgG (SL0295G-HRP) at 1/5000 dilution
Predicted band size: 51 kD
Observed band size: 51 kD
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