Gene: GDF5-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs397514668 in GDF5-AS1;GDF5 gene and BRACHYDACTYLY, TYPE A2 PMID 21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

PMID 16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

PMID 18203755 2008 We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals.

rs1568731526 in GDF5-AS1;GDF5 gene and Chondrodysplasia, Grebe type PMID 12900894 2003 Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.

rs74315388 in GDF5-AS1;GDF5 gene and MULTIPLE SYNOSTOSES SYNDROME 2 PMID 19956691 2009 Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

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

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.

rs224330 in GDF5-AS1;GDF5 gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs224330 in GDF5-AS1;GDF5 gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs121909349 in GDF5-AS1;GDF5 gene and SYMPHALANGISM, PROXIMAL, 1B PMID 18283415 2008 Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

PMID 16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

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