GDF11 growth differentiation factor 11

Gene ID: 10220, updated on 10-Oct-2024
Gene type: protein coding
Also known as: VHO; BMP11; BMP-11

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 in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Vertebral hypersegmentation and orofacial anomalies MedGen: C5436851OMIM: 619122GeneReviews: Not available	See labs

Genomic context

Location:: 12q13.2

Sequence:: Chromosome: 12; NC_000012.12 (55743122..55757264)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GDF11 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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