基因名:
CEP295
产品别名:
KIAA1731; CEP295; centrosomal protein 295; centrosomal protein 295; centrosomal protein of 295 kDa; centriolar protein CEP295; centrosomal protein 295kDa; KIAA1731蛋白;
背景信息:
KIAA1737 is a 399 amino acid protein that is encoded by a gene that maps to human chromosome 14q24.3. 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 α1-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.