GDF3 growth differentiation factor 3
Gene ID: 9573, updated on 2-Nov-2024Gene type: protein coding
Also known as: KFS3; MCOP7; MCOPCB6
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- Go to complete Gene record for GDF3
- Go to Variation Viewer for GDF3 variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. GeneReviews: Not available | |
| Isolated microphthalmia 7 | See labs |
| Klippel-Feil syndrome 3, autosomal dominant | See labs |
| Microphthalmia, isolated, with coloboma 6 | See labs |
Genomic context
- Location:
- 12p13.31
- Sequence:
- Chromosome: 12; NC_000012.12 (7689784..7695775, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GDF3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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