Biotin-Linked Monoclonal Antibody to Growth Differentiation Factor 3 (GDF3)

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]

GDF3: Defects in GDF3 are the cause of Klippel-Feil syndrome type 3 (KFS3); also called Klippel-Feil syndrome autosomal dominant 3. KFS3 is a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Defects in GDF3 are the cause of microphthalmia isolated with coloboma type 6 (MCOPCB6); also called isolated colobomatous microphthalmia 6. MCOPCB6 is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Defects in GDF3 are a cause of microphthalmia isolated type 7 (MCOP7). MCOP7 is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Belongs to the TGF-beta family.

Protein type: Cytokine; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 12p13.31

Cellular Component: cytoplasm; extracellular space

Molecular Function: cytokine activity; growth factor activity; protein kinase binding; transforming growth factor beta receptor binding

Biological Process: cell development; endoderm development; eye development; formation of anatomical boundary; in utero embryonic development; mesoderm development; negative regulation of BMP signaling pathway; negative regulation of epidermal cell differentiation; negative regulation of myoblast differentiation; notochord development; positive regulation of fat cell differentiation; regulation of apoptosis; regulation of cell fate commitment; regulation of MAPK cascade; response to dietary excess; skeletal system development; somite rostral/caudal axis specification

Disease: Klippel-feil Syndrome 3, Autosomal Dominant; Microphthalmia, Isolated 7; Microphthalmia, Isolated, With Coloboma 6