Dyskeratosis congenita Germline mutations in<unk> β result in disorder known as dyskeratosis congenita, characterized by bone marrow failure, premature ageing, predisposition for cancer and a triad of mucocutaneous features including oral leukoplakia, abnormal skin pigmentation and nail dystrophy. Mutations in<unk> β are inherited in an autosomal recessive fashion, reside in highly conserved regions of its WD40 domain and result in a more severe form of this disease. These mutations reduce the nuclear level of<unk> β, impair its trafficking of telomerase to telomeres, and subsequently lead to progressive shortening of telomeres in these patients The chaperonin CCT/TRiC is crucial for proper folding of<unk> β and this folding is impaired in dyskeratosis congenita Spinal muscular atrophy Defective<unk> β-mediated trafficking of SMN is observed in patients afflicted by the most severe form of spinal muscular atrophy (type I or Werdnig-Hoffmann disease), a neurodegenerative disorder characterized by progressive degeneration of spinal cord anterior horn α-motor neurons and the leading genetic cause of infant mortality with an incidence of approximately 1:6000 live births. Mutations in the SMN1 gene are the underlying cause to spinal muscular atrophy (SMA). Cancer<unk> β is overexpressed in a variety of cancer cell lines of different origins and such overexpression promotes carcinogenic transformation indicating that this protein possesses oncogenic properties.<unk> β is overexpressed in primary nasopharyngeal carcinoma, esophageal squamous cell carcinoma and rectal cancer. Moreover, knockdown of<unk> β in cancer cells reduced the size of the tumors formed when these are grafted into mice and triggers mitochondrial-dependent apoptosis in cancer cells. In contrary, inactivating mutations in both alleles of<unk> β causes dyskeratosis congenita, indicating that this protein acts as tumor suppressor, rather than an oncogene. Loss of nuclear<unk> β is also correlated with shortened survival and resistance to radiotherapy in patients with head and neck cancer. With its complex roles in a number of cellular processes,<unk> β may act as a tumor suppressor under certain conditions and as an oncogene in under others. Single nucleotide polymorphisms (SNPs) in the<unk>  gene have been linked to an increased risk for breast and ovarian cancer. One of these SNPs also associate with defective DNA repair and hematotoxicity in workers exposed to benzene.
WRAP53
ERCC2
CoWIN
KRAS
CDK13
INK4
TFM-4AS-1
FCER1