GDF6

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]

Description

Growth differentiation factor 6

Tissue specificity

Tissue enriched (placenta)

Subcell location

Nucleoplasm, Nuclear membrane, Vesicles

Predicted location

Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins

Chromosome

8 (96142333 - 96160806)

Ensembl ID

ENSG00000156466  (ver. 103.38)

Orthologs

Mouse Gdf6: ENSMUSG00000051279

UniProt

Q6KF10

neXtProt

NX_Q6KF10

Human splice variants
Mouse splice variants

Protein structure