基因名:
PPP1R11
产品别名:
CFAP255; HCG-V; HCGV; IPP3; TCTE5; TCTEX5; PPP1R11; protein phosphatase 1 regulatory inhibitor subunit 11; protein phosphatase 1 regulatory inhibitor subunit 11; E3 ubiquitin-protein ligase PPP1R11; HCG V; hemochromatosis candidate gene V protein; inhibitor-3; protein phosphatase 1 regulatory subunit 11; protein phosphatase inhibitor 3; t-complex-associated-testis-expressed 5; 线粒体核糖核酸酶P蛋白3; 蛋白磷酸酶1调节因子亚基11(PPP1R11); 蛋白磷酸酶PPP1R11;
背景信息:
Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies. The KIAA0391 gene product has been provisionally designated KIAA0391 pending further characterization.