Gene: GDF5

Alternate names for this Gene: BDA1C|BMP-14|BMP14|CDMP1|DUPANS|LAP-4|LAP4|OS5|SYM1B|SYNS2

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: growth differentiation factor 5

Type of Gene: protein-coding

Gene: GDF5-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs397514519 in GDF5;GDF5-AS1 gene and BRACHYDACTYLY, TYPE A1, C PMID 24098149 2013 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PMID 20683927 2010 Mutations in GDF5 presenting as semidominant brachydactyly A1.

rs74315387 in GDF5;GDF5-AS1 gene and Chondrodysplasia, Grebe type PMID 9288098 1997 Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

rs121909350 in GDF5;GDF5-AS1 gene and Fibular hypoplasia and complex brachydactyly PMID 16222676 2005 Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

PMID 18629880 2008 Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

PMID 12121354 2002 Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

rs121909347 in GDF5;GDF5-AS1 gene and MULTIPLE SYNOSTOSES SYNDROME 2 PMID 19956691 2009 Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

PMID 24098149 2013 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PMID 16532400 2006 GDF5 is a second locus for multiple-synostosis syndrome.

PMID 21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

rs74315389 in GDF5;GDF5-AS1 gene and SYMPHALANGISM, PROXIMAL, 1B PMID 16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

PMID 18283415 2008 Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

PMID 16892395 2006 A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.