growth/differentiation factor 5; GDF-5; cartilage-derived morphogenetic protein 1; CDMP-1; Radotermin (GDF5, CDMP1)

Function

• could be involved in bone formation

Structure

• homodimer; disulfide-linked (putative)
• belongs to the TGF-beta family

Compartment

secreted

Expression

• predominantly expressed in long bones during embryonic development

Pathology

• defects in GDF5 are the cause of
  • acromesomelic chondrodysplasia Grebe type
  • acromesomelic chondrodysplasia Hunter-Thompson type
  • brachydactyly type C
  • Du pan syndrome
  • multiple synostoses syndrome 2
• defects in GDF5 are a cause of
  • symphalangism proximal syndrome
  • brachydactyly type A2
• genetic variations in GDF5 are associated with osteoarthritis susceptibility type 5

More general terms

• growth/differentiation factor (GDF)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8200
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8200
• OMIM: https://mirror.omim.org/entry/112600
• OMIM: https://mirror.omim.org/entry/113100
• OMIM: https://mirror.omim.org/entry/185800
• OMIM: https://mirror.omim.org/entry/200700
• OMIM: https://mirror.omim.org/entry/201250
• OMIM: https://mirror.omim.org/entry/228900
• OMIM: https://mirror.omim.org/entry/601146
• OMIM: https://mirror.omim.org/entry/610017
• OMIM: https://mirror.omim.org/entry/612400
• UniProt: http://www.uniprot.org/uniprot/P43026.html