Scientific background: |
Fibulin-2, also known as FBLN2, is a protein that in humans is encoded by the FBLN2 gene. This gene encodes an extracellular matrix protein, which belongs to the fibulin family. By isotopic in situ hybridization, this gene is mapped to 3p25.1. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. It may play a role in testis development. Its binding to fibronectin and some other ligands is calcium dependent. |
References: |
1. Ackerman, C., Locke, A. E., Feingold, E., Reshey, B., Espana, K., Thusberg, J., Mooney, S., Bean, L. J. H., Dooley, K. J., Cua, C. L., Reeves, R. H., Sherman, S. L., Maslen, C. L. An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am. J. Hum. Genet. 91: 646-659, 2012.
2. Kuivaniemi, H., Marshall, A., Ganguly, A., Chu, M.-L., Abbott, W. M., Tromp, G. Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms. Europ. J. Hum. Genet. 6: 642-646, 1998.
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