GDF5

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.[5][6][7]

GDF5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGDF5, BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2, growth differentiation factor 5, DUPANS
External IDsOMIM: 601146 MGI: 95688 HomoloGene: 468 GeneCards: GDF5
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q11.22Start35,433,347 bp[1]
End35,454,746 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8200

14563

Ensembl

ENSG00000125965

ENSMUSG00000038259

UniProt

P43026

P43027

RefSeq (mRNA)

NM_000557
NM_001319138

NM_008109

RefSeq (protein)

NP_000548
NP_001306067

NP_032135

Location (UCSC)Chr 20: 35.43 – 35.45 MbChr 2: 155.94 – 155.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The protein encoded by this gene is closely related to the bone morphogenetic protein (BMP) family and is a member of the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and osteochondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development.[7]

Growth differentiation factor 5 (GDF5) is a protein belonging to the transforming growth factor beta superfamily that is expressed in the developing central nervous system,[8] and has a role in skeletal and joint development.[9][10][11] It also increases the survival of neurones that respond to the neurotransmitter dopamine, and is a potential therapeutic molecule associated with Parkinson's disease.[12]

References

  1. GRCh38: Ensembl release 89: ENSG00000125965 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000038259 - Ensembl, 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. Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML (Oct 1997). "Mutations in CDMP1 cause autosomal dominant brachydactyly type C". Nat Genet. 17 (1): 18–9. doi:10.1038/ng0997-18. hdl:2066/24464. PMID 9288091. S2CID 6580906.
  6. Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP (Oct 1997). "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1". Nat Genet. 17 (1): 58–64. doi:10.1038/ng0997-58. PMID 9288098. S2CID 31479619.
  7. "Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)".
  8. O'Keeffe G, Dockery P, Sullivan A (2004). "Effects of growth/differentiation factor 5 on the survival and morphology of embryonic rat midbrain dopaminergic neurones in vitro". J Neurocytol. 33 (5): 479–88. doi:10.1007/s11068-004-0511-y. PMID 15906156. S2CID 25940876.
  9. Buxton P, Edwards C, Archer C, Francis-West P (2001). "Growth/differentiation factor-5 (GDF-5) and skeletal development". J Bone Joint Surg Am. 83-A Suppl 1 (Pt 1): S23–30. PMID 11263662.
  10. Francis-West P, Abdelfattah A, Chen P, Allen C, Parish J, Ladher R, Allen S, MacPherson S, Luyten F, Archer C (1999). "Mechanisms of GDF-5 action during skeletal development". Development. 126 (6): 1305–15. PMID 10021348.
  11. Francis-West P, Parish J, Lee K, Archer C (1999). "BMP/GDF-signalling interactions during synovial joint development". Cell Tissue Res. 296 (1): 111–9. doi:10.1007/s004410051272. PMID 10199971. S2CID 21942870.
  12. Sullivan A, O'Keeffe G (2005). "The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatment". J Anat. 207 (3): 219–26. doi:10.1111/j.1469-7580.2005.00447.x. PMC 1571542. PMID 16185246.

Further reading

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