Family With Sequence Similarity 30, Member A (FAM30A)

Family With Sequence Similarity 30, MemberA (FAM30A) belongs to the FAM30 family. 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 1-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 Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.