- Gene Overview
- Interaction Network
- Sequence Verification
GDF6, growth differentiation factor 6
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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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]
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Gene Synonyms (BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4, growth/differentiation factor 6, bone morphogenetic protein 13, growth/differentiation factor 16,)
- NCBI Gene ID:
392255
- Species:
Homo sapiens (Human)
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UNIPROT ID#>>Q6KF10
UNIPROT ID#>>A0A0S2A5D6
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
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growth differentiation factor 6 interacts with:
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how a sequence matches to an experimentally-validated ORF clone.
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