GDF6

Name

growth differentiation factor 6

Type

protein-coding

Position

96,142,333–96,160,806 (−)

Aliases

BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4

Ensembl

ENSG00000156466

RefSeq RNA

NM_001001557.4

RefSeq protein

NP_001001557.1

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].