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Protein Page:
GDF6 (human)

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. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; Cytokine; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 8q22.1
Cellular Component: extracellular space
Molecular Function: cytokine activity; transforming growth factor beta receptor binding
Biological Process: activin receptor signaling pathway; apoptosis; BMP signaling pathway; cell development; fat cell differentiation; positive regulation of chondrocyte differentiation; positive regulation of transcription, DNA-dependent; regulation of apoptosis; regulation of MAPKKK cascade
Disease: Klippel-feil Syndrome 1, Autosomal Dominant; Leber Congenital Amaurosis 17; Microphthalmia, Isolated 4; Microphthalmia, Isolated, With Coloboma 6
Reference #:  Q6KF10 (UniProtKB)
Gene Symbols: GDF6
Molecular weight: 50,662 Da
Basal Isoelectric point: 9.1  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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