Growth Differentiation Factor 5 (GDF5)

CDMP1; LAP4; SYNS2; BMP14; Radotermin; Cartilage-Derived Morphogenetic Protein-1; Bone morphogenetic protein 14; Lipopolysaccharide-associated protein 4

SPN	U734
HGNC	4220
MGI	95688
PubMed	23356643
UniProt	P43026
Wiki	GDF5

Growth/differentiation factor 5 is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues.

Growth differentiation factor 5 (GDF5) is a protein belonging to the transforming growth factor beta superfamily that is expressed in the developing central nervous system, and has a role in skeletal and joint development.It also increases the survival of neurones that respond to a neurotransmitter called dopamine, and is a potential therapeutic molecule associated with Parkinson's disease.

Reference

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Biochem. Biophys. Res. Commun. 204:646-652(1994) [PubMed] [Europe PMC] [Abstract]

"Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development."
J. Biol. Chem. 269:28227-28234(1994) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 20."
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A CD14-independent LPS receptor cluster."
Nat. Immunol. 2:338-345(2001) [PubMed] [Europe PMC] [Abstract]

"Cartilage-derived morphogenetic protein-1 promotes the differentiation of mesenchymal stem cells into chondrocytes."
Biochem. Biophys. Res. Commun. 325:453-460(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN."
PLoS Genet. 5:E1000747-E1000747(2009) [PubMed] [Europe PMC] [Abstract]

"New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance."
J. Bone Miner. Res. 27:429-442(2012) [PubMed] [Europe PMC] [Abstract]

"A GDF5 point mutation strikes twice--causing BDA1 and SYNS2."
PLoS Genet. 9:E1003846-E1003846(2013) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C."
J. Mol. Biol. 426:3221-3231(2014) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in CDMP1 causes brachydactyly type C with 'angel-shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum."
Eur. J. Med. Genet. 55:611-614(2012) [PubMed] [Europe PMC] [Abstract]

"Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity."
EMBO J. 28:937-947(2009) [PubMed] [Europe PMC] [Abstract]

"Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1."
Nat. Genet. 17:58-64(1997) [PubMed] [Europe PMC] [Abstract]

"Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5)."
Am. J. Hum. Genet. 65:A281-A281(1999)

"Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)."
Clin. Genet. 61:454-458(2002) [PubMed] [Europe PMC] [Abstract]

"Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1."
Am. J. Med. Genet. A 124:356-363(2004) [PubMed] [Europe PMC] [Abstract]

"Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene."
Am. J. Med. Genet. A 138:379-383(2005) [PubMed] [Europe PMC] [Abstract]

"Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2."
J. Clin. Invest. 115:2373-2381(2005) [PubMed] [Europe PMC] [Abstract]

"GDF5 is a second locus for multiple-synostosis syndrome."
Am. J. Hum. Genet. 78:708-712(2006) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families."
Am. J. Med. Genet. A 140:1846-1853(2006) [PubMed] [Europe PMC] [Abstract]

"A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis."
Nat. Genet. 39:529-533(2007) [PubMed] [Europe PMC] [Abstract]

"Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia."
Am. J. Med. Genet. A 146:2116-2121(2008) [PubMed] [Europe PMC] [Abstract]

"Brachydactyly type A2 associated with a defect in proGDF5 processing."
Hum. Mol. Genet. 17:1222-1233(2008) [PubMed] [Europe PMC] [Abstract]

"Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism."
J. Hum. Genet. 53:368-374(2008) [PubMed] [Europe PMC] [Abstract]

"Mutations in GDF5 presenting as semidominant brachydactyly A1."
Hum. Mutat. 31:1155-1162(2010) [PubMed] [Europe PMC] [Abstract]