Background information
CAPS2 is a 557 amino acid calcium-binding protein that is abundantly expressed, with highest expression found in placenta, testis, colon, lung and brain. CAPS2 contains three EF-hand domains and exists as three alternatively spliced isoforms. Suggested to play a role in large dense-core vesicle (LDCV) exocytosis, CAPS2 is encoded by a gene that maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.
