Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodesthe presinilin 1 (PSEN1) gene,which is one of the three key genes associated with the development of Alzheimer’s disease. The SERPINA1 gene islocated on chromosome 14 and when defective leadsto the genetic disorder α1-antitrypsin deficiency. This disorder is characterized bysevere lung complications and liver dysfunction. Notably, the immunoglobulin heavychain locusisfoundon chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the translocationsfound in a variety of B cellmalignancies. The PSMC1 gene product has been provisionally designated PSMC1 pending furthercharacterization.
