GDF10

Chr 10

growth differentiation factor 10

Also known as: BIP, BMP-3b, BMP3B

NCBI Gene: 2662 ENSG00000266524 UniProt: P55107

The protein is a secreted growth factor of the TGF-beta superfamily that regulates osteogenesis and adipogenesis by inhibiting osteoblast differentiation and adipogenesis through the SMAD2/3 pathway. Pathogenic variants in this gene cause autosomal recessive Klippel-Feil syndrome, characterized by congenital fusion of cervical vertebrae and associated skeletal malformations. The gene shows tolerance to loss-of-function variants (pLI 0.005), consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

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 promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.84

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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