Entrez gene ID | | 392255 |
Official gene symbol | | GDF6 |
Full name | | growth differentiation factor 6 |
Aliases | | ,BMP13,CDMP2,KFS,KFSL,MCOP4,MGC158100,MGC158101,SCDO4,SGM1, |
Gene summary | | This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq] |
Location | | Chromosome: 8 Locus: 8q22.1 |
Gene position | | 97173020 - 97154558 Map Viewer |
Gene orientation | | minus |
Gene size | | 18463 bp |
Gene sequence |
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OMIM ID | | 601147 |
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