GDF3 Chromosome 12
Growth differentiation factor 3
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What This Gene Does
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]
Gene Info
Gene Group
Transforming growth factor beta superfamily
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000184344
Associated Conditions (11)
Microphthalmia
isolated
with coloboma 6
Klippel-Feil syndrome 3
autosomal dominant
Supernumerary ribs
Missing ribs
Scoliosis
Hemivertebrae
GDF3-related disorder
Isolated microphthalmia 7
Key Variants
RS140926412
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 6
Health Risk
RS146973734
Conflicting classifications of pathogenicity
Isolated microphthalmia 7, Microphthalmia, isolated
Health Risk
RS387906945
Likely pathogenic
Health Risk
RS780787386
Likely pathogenic
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140926412 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, isolated, with coloboma 6 |
| RS146973734 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 7, Microphthalmia, isolated |
| RS387906945 | Health Risk | Likely pathogenic | — |
| RS780787386 | Health Risk | Likely pathogenic | — |