ID:GDF6_HUMAN DESCRIPTION: RecName: Full=Growth/differentiation factor 6; Short=GDF-6; AltName: Full=Growth/differentiation factor 16; Flags: Precursor; FUNCTION: 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 (By similarity). SUBUNIT: Homodimer; disulfide-linked (By similarity). SUBCELLULAR LOCATION: Secreted (Probable). DISEASE: Defects in GDF6 are the cause of Klippel-Feil syndrome type 1 (KFS1) [MIM:118100]. 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. DISEASE: Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3). DISEASE: Defects in GDF6 are the cause of microphthalmia isolated type 4 (MCOP4) [MIM:613094]. 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. SIMILARITY: Belongs to the TGF-beta family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6KF10
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
