GDF6
Sign in to saveAlso known as BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17
Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.
Gene data
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].
Gene Ontology
Biological process
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
growth differentiation factor 6
- Symbol
- GDF6
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:96,142,333-96,160,813
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 40883
- exact match
- identifiers.org/ncbigene/392255
- genomic start
- 96142333
- genomic end
- 96160806
- cytogenetic location
- 8q22.1
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- Function
- References
- Further reading
Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.
== Function ==