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]

Full Name

Growth Differentiation Factor 3

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 (By similarity).

Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and TDGF1/Cripto (PubMed:21805089).

Biological Process

BMP signaling pathway Source: GO_Central
Eye development Source: UniProtKB
Negative regulation of BMP signaling pathway Source: UniProtKB
Negative regulation of epidermal cell differentiation Source: UniProtKB
Positive regulation of fat cell differentiation Source: BHF-UCL
Positive regulation of pathway-restricted SMAD protein phosphorylation Source: GO_Central
Regulation of cell fate commitment Source: UniProtKB
Skeletal system development Source: UniProtKB
SMAD protein signal transduction Source: GO_Central

Cellular Location

Cytoplasm; Secreted. Mainly accumulated in the cytoplasm.

Involvement in disease

Klippel-Feil syndrome 3, autosomal dominant (KFS3):
A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.
Microphthalmia, isolated, with coloboma, 6 (MCOPCB6):
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Microphthalmia, isolated, 7 (MCOP7):
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.

PTM

Synthesized as large precursor molecule that undergo proteolytic cleavage, releasing the pro-domain from the active, receptor binding, C-terminal region of the molecule.

Anti-GDF3 antibodies

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Mouse Anti-GDF3 Recombinant Antibody (A7) (CBMAB-AP2486LY)

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Target: GDF3

Host: Mouse

Antibody Isotype: IgG2b, κ

Specificity: Human, Pig, Rat

Clone: A7

Application*: ICC, IHC, IP, WB

GDF3

Anti-GDF3 antibodies

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