Myostatin

MSTN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMSTN, GDF8, MSLHP, myostatin
External IDsOMIM: 601788; MGI: 95691; HomoloGene: 3850; GeneCards: MSTN; OMA:MSTN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005259

NM_010834

RefSeq (protein)

NP_005250

NP_034964

Location (UCSC)Chr 2: 190.06 – 190.06 MbChr 1: 53.1 – 53.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
In humans, the MSTN gene is located on the long (q) arm of chromosome 2 at position 32.2.[5]

Myostatin (also known as growth differentiation factor 8, abbreviated GDF8) is a protein that in humans is encoded by the MSTN gene.[6] Myostatin is a myokine that is produced and released by myocytes and acts on muscle cells to inhibit muscle growth.[7] Myostatin is a secreted growth differentiation factor that is a member of the TGF beta protein family.[8][9]

Myostatin is assembled and produced in skeletal muscle before it is released into the blood stream.[10] Most of the data regarding the effects of myostatin comes from studies performed on mice.[11]

Animals either lacking myostatin or treated with substances that block the activity of myostatin have significantly more muscle mass. Furthermore, individuals who have mutations in both copies of the myostatin gene (popularly, but inaccurately called the "Hercules gene") have significantly more muscle mass and are stronger than normal. There is hope that studies into myostatin may have therapeutic application in treating muscle wasting diseases such as muscular dystrophy.[12]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138379Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026100Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "MSTN gene". Genetics Home Reference. 28 March 2016.
  6. ^ Gonzalez-Cadavid NF, Taylor WE, Yarasheski K, Sinha-Hikim I, Ma K, Ezzat S, et al. (December 1998). "Organization of the human myostatin gene and expression in healthy men and HIV-infected men with muscle wasting". Proceedings of the National Academy of Sciences of the United States of America. 95 (25): 14938–14943. Bibcode:1998PNAS...9514938G. doi:10.1073/pnas.95.25.14938. PMC 24554. PMID 9843994.
  7. ^ Saunders MA, Good JM, Lawrence EC, Ferrell RE, Li WH, Nachman MW (December 2006). "Human adaptive evolution at Myostatin (GDF8), a regulator of muscle growth". American Journal of Human Genetics. 79 (6): 1089–1097. doi:10.1086/509707. PMC 1698719. PMID 17186467.
  8. ^ Carnac G, Ricaud S, Vernus B, Bonnieu A (July 2006). "Myostatin: biology and clinical relevance". Mini Reviews in Medicinal Chemistry. 6 (7): 765–770. doi:10.2174/138955706777698642. PMID 16842126.
  9. ^ Joulia-Ekaza D, Cabello G (June 2007). "The myostatin gene: physiology and pharmacological relevance". Current Opinion in Pharmacology. 7 (3): 310–315. doi:10.1016/j.coph.2006.11.011. PMID 17374508.
  10. ^ Cite error: The named reference :1 was invoked but never defined (see the help page).
  11. ^ Cite error: The named reference :2 was invoked but never defined (see the help page).
  12. ^ Cite error: The named reference pmid18600566 was invoked but never defined (see the help page).

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