GDF-3 Human Active Protein

The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. [provided by RefSeq, Jul 2008]

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: Secreted, signal peptide; Cytokine; Secreted

Chromosomal Location of Human Ortholog: 12p13.1

Cellular Component: extracellular space; cytoplasm

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

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

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