LongevityMap Gene
Gene details
- HGNC symbol
- MSTN
- Aliases
- GDF8; MSLHP
- Common name
- myostatin
- Description
- 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]
- Cytogenetic Location
- 2q32.2
- UCSC Genome Browser
- View 2q32.2 on the UCSC genome browser
- OMIM
- 601788
- Ensembl
- ENSG00000138379
- UniProt/Swiss-Prot
- GDF8_HUMAN
- Entrez Gene
- 2660
- UniGene
- 41565
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- GenAge model organism genes
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- Spanish and Italian
- Study Design
- MSTN variants were analyzed in 540 individuals (cases, n = 156; 132 women, age range 100–111 years) and younger adults (controls, n = 384; 167 women, age <50 years) for the association with longevity. The results were replicated in an Italian cohort (centenarians, n = 79 (40 women), age range 100–104 years; younger controls, n = 316 (155 women), age <50 years).
- Conclusions
- The frequency of the variant R allele of the MSTN K153R(rs1805086) polymorphism was significantly higher in Spanish centenarians (7.1 %) than in controls (2.7 %) (P = 0.001). Similar results were found in Italian centenarians (7.6 %) compared to controls (3.0 %) (P = 0.004). The variant R allele is associated with exceptional longevity.
- Indentifier
- rs1805086
- Reference