GDF3

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 plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]

Description

Growth differentiation factor 3

Tissue specificity

Tissue enhanced (kidney)

Predicted location

Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

12 (7689784 - 7695775)

Ensembl ID

ENSG00000184344  (ver. 103.38)

Orthologs

Mouse Gdf3: ENSMUSG00000030117

UniProt

Q9NR23

neXtProt

NX_Q9NR23

Human splice variants
Mouse splice variants

Protein structure