BMP-13 / CDMP-2 (BMP-13) Human Active Protein

This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008]

GDF6: Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Defects in GDF6 are the cause of Klippel-Feil syndrome type 1 (KFS1). 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. Deafness is a well- known feature of KFS and may be of sensorineural, conductive, or mixed type. A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3). Defects in GDF6 are the cause of microphthalmia isolated type 4 (MCOP4). 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; Cell development/differentiation; Secreted; Cytokine

Chromosomal Location of Human Ortholog: 8q22.1

Cellular Component: extracellular space

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

Biological Process: BMP signaling pathway; regulation of apoptosis; apoptosis; positive regulation of transcription, DNA-dependent; regulation of MAPKKK cascade; activin receptor signaling pathway; positive regulation of neuron differentiation; cell development; growth

Disease: Klippel-feil Syndrome 1, Autosomal Dominant; Microphthalmia, Isolated 4; Leber Congenital Amaurosis 17; Microphthalmia, Isolated, With Coloboma 6