rs188252641
This variant is located in the GDF5 gene.
▶ClinVar annotation
Grebe syndrome; Acromesomelic dysplasia 2B; Brachydactyly; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2C, Hunter-Thompson type
View on ClinVar →About GDF5
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 regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]
View all GDF5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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