Anti-SMOC1 Antibody Picoband® Fluoro647 Conjugated

This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

1. Abouzeid, H., Boisset, G., Favez, T., Youssef, M., Marzouk, I., Shakankiry, N., Bayoumi, N., Descombes, P., Agosti, C., Munier, F. L., Schorderet, D. F. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause Waardenburg anophthalmia syndrome. Am. J. Hum. Genet. 88: 92-98, 2011. 2. Hamanoue, H., Megarbane, A., Tohma, T., Nishimura, A., Mizuguchi, T., Saitsu, H., Sakai, H., Miura, S., Toda, T., Miyake, N., Niikawa, N., Yoshiura, K., Hirahara, F., Matsumoto, N. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am. J. Med. Genet. 149A: 336-342, 2009. 3. Okada, I., Hamanoue, H., Terada, K., Tohma, T., Megarbane, A., Chouery, E., Abou-Ghoch, J., Jalkh, N., Cogulu, O., Ozkinay, F., Horie, K., Takeda, J., and 16 others. SMOC1 is essential for ocular and limb development in humans and mice. Am. J. Hum. Genet. 88: 30-41, 2011.