| Modification Notes |
CRYBG3 (beta-gamma crystallin domain containing 3) is a 1,022 amino acid protein that exists as two alternatively spliced isoforms belonging to the beta/gamma-crystallin family. CRYBG3 contains a ricin B-type lectin domain and nine beta/gamma crystallin 'Greek key" domains. CRYBG3 is encoded by a gene that maps to human chromosome 3q11.2, which is made up of about 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. |