GDF5

Also known as BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.

Gene data

GDF5

Name: growth differentiation factor 5
Type: protein-coding
Aliases: BDA1C, BMP-14, BMP14, CDMP1, DUPANS, LAP-4, LAP4, OS5, SYM1B, SYNS2

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].

via MyGene.info

Gene · Ensembl

growth differentiation factor 5

Symbol: GDF5
Biotype: Protein coding
Organism: Homo sapiens
Location: 20:35,433,347-35,454,754
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein GDF5 PDB 1waq.png

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HomoloGene ID: 468
exact match: identifiers.org/ncbigene/8200
genomic end: 34042568
genomic start: 34021145
cytogenetic location: 20q11.22

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Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.

The protein encoded by this gene is closely related to the bone morphogenetic protein (BMP) family and is a member of 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. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and osteochondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development.