Full name: growth differentiation factor 6

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL; SGM1; SYNS4

Summary: 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]

Expression: Biased expression in placenta (RPKM 7.2), gall bladder (RPKM 1.8) and 6 other tissues

Gene size: 18474bp

Exon count: 2