| Modification Notes |
Vitrin (VIT) is a 678 amino acid secreted protein that exists as four alternatively spliced isoforms, and contains two VWFA domains and one LCCL domain. While it binds dermatan sulfate and chondroitin sulfate, Vitrin promotes matrix assembly and cell adhesiveness. The gene that encodes Vitrin consists of more than 118,000 bases and maps to human chromosome 2p22.2. Consisting of 237 million bases, chromosome 2 encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alström syndrome, is due to mutations in the ALMS1 gene. |