GDF5

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]

Description

Growth differentiation factor 5

Tissue specificity

Tissue enriched (salivary gland)

Predicted location

Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins

Chromosome

20 (35433347 - 35454746)

Ensembl ID

ENSG00000125965  (ver. 103.38)

Orthologs

Mouse Gdf5: ENSMUSG00000038259

UniProt

P43026

neXtProt

NX_P43026

Human splice variants
Mouse splice variants

Protein structure