Bio Background |
This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq]. |
Bio References |
Yerges, L.M., et al. J. Bone Miner. Res. 24(12):2039-2049(2009) Heuss, S.F., et al. Proc. Natl. Acad. Sci. U.S.A. 105(32):11212-11217(2008) Maisenbacher, M.K., et al. Hum. Genet. 116(5):416-419(2005) Whittock, N.V., et al. Clin. Genet. 66(1):67-72(2004) Bonafe, L., et al. Clin. Genet. 64(1):28-35(2003) |