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Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
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Protein Aliases: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3; Magnesium uptake/transporter TUSC3; MGC13453; Oligosaccharyl transferase subunit TUSC3; oligosaccharyltransferase 3 homolog A; Protein N33; Putative prostate cancer tumor suppressor; Tumor suppressor candidate 3
Gene Aliases: AU022242; BC003311; D8S1992; M33; MRT22; MRT7; N33; OST3A; TUSC3
UniProt ID: (Human) Q13454, (Mouse) Q8BTV1
Entrez Gene ID: (Human) 7991, (Rat) 290783, (Mouse) 80286
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