ZNF839, also known as C14orf131, is an 811 amino acid protein that contains one C2H2-type zinc finger. The gene encoding ZNF839 localizes to chromosome 14 and, due to alternative splicing events, four ZNF839 isoforms are expressed. 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 alpha1-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.
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