GDF11 Chromosome 12
Growth differentiation factor 11
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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 in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Transforming growth factor beta superfamily
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000135414
Associated Conditions (2)
Orofacial cleft
Vertebral hypersegmentation and orofacial anomalies
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1878258280 | Health Risk | Pathogenic/Likely pathogenic | Orofacial cleft, Vertebral hypersegmentation and orofacial anomalies, Orofacial cleft |