Recombinant Human Growth/differentiation factor 3 (GDF3)

Uniprot Id

Q9NR23

Target Species

Human

Target Name

GDF3

Target Full Name

Growth/differentiation factor 3

Target Function

Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor TDGF1/Cripto. Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and TDGF1/Cripto.

Target Involvement

Klippel-Feil syndrome 3, autosomal dominant (KFS3); Microphthalmia, isolated, with coloboma, 6 (MCOPCB6); Microphthalmia, isolated, 7 (MCOP7)

Target Subcellular Location

Secreted. Cytoplasm.

Target Protein Families

TGF-beta family

Target Synonyms

C78318; ecat9; GDF 3 ; GDF-3; GDF3; GDF3_HUMAN; Growth differentiation factor 3; Growth/differentiation factor 3; KFS3; MCOP7; MCOPCB6; MGC123990; MGC123991; RGD1564178; Vgr 2; Vgr2

Target Background

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.