MSTN myostatin
Gene ID: 2660, updated on 23-Mar-2024Gene type: protein coding
Also known as: GDF8; MSLHP
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- Go to complete Gene record for MSTN
- Go to Variation Viewer for MSTN 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 negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Myostatin-related muscle hypertrophy | See labs |
Genomic context
- Location:
- 2q32.2
- Sequence:
- Chromosome: 2; NC_000002.12 (190055700..190062729, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MSTN 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
- MSTN homepage - Leiden Muscular Dystrophy pages
- 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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