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GDF3 growth differentiation factor 3

Also known as: KFS3; MCOP7; MCOPCB6


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]

Associated conditions

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Klippel-Feil syndrome 3, autosomal dominant
MedGen: C3150967OMIM: 613702GeneReviews: Not available
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Microphthalmia, isolated 7
MedGen: C3150969OMIM: 613704GeneReviews: Not available
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Microphthalmia, isolated, with coloboma 6
MedGen: C3150968OMIM: 613703GeneReviews: Not available
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Genomic context

Chromosome: 12; NC_000012.12 (7689785..7695764, complement)
Total number of exons:


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