[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/gdf6-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/gdf6-wikipedia\/","headline":"GDF6 – Wikipedia","name":"GDF6 – Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Protein-coding gene in the species Homo sapiens GDF6 Identifiers Aliases GDF6, BMP-13, BMP13,","datePublished":"2022-10-18","dateModified":"2022-10-18","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/gdf6-wikipedia\/","wordCount":7323,"articleBody":" (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Protein-coding gene in the species Homo sapiensGDF6IdentifiersAliasesGDF6, BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1, growth differentiation factor 6, SYNS4External IDsOMIM: 601147 MGI: 95689 HomoloGene: 40883 GeneCards: GDF6 WikidataGrowth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.[5] (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Table of ContentsFunction[edit]Clinical significance[edit]References[edit]Further reading[edit]Function[edit]GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins,[6] and control eye development.[7][8]Growth differentiation factor 6 (GDF6) is a regulatory protein associated with growth and differentiation of developing embryos. GDF6 is encoded by the GDF6 gene. It is a member the transforming growth factor beta superfamily which is a group of proteins involved in early regulation of cell growth and development. GDF6 has been shown to play an important role in the patterning of the epidermis[9] and bone and joint formation.[10] GDF6 induces genes related to the development of the epidermis and can bind directly to noggin, a gene that controls neural development, to block its effect.[9] GDF6 interacts with bone morphogenetic proteins (BMPs) to form heterodimers that may work to regulate neural induction and patterning in developing embryos.[9] By developing a GDF6 \u201cknockout\u201d model, scientists repressed expression of GDF6 in developing mice embryos. Through this experiment, the scientists were able to directly link GDF6 with several skull and vertebral joint disorders, such as scoliosis and chondrodysplasia, Grebe type.[10] (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Clinical significance[edit]GDF6 is recurrently amplified and specifically expressed in 80% of the melanomas. Patients with less GDF6 had a lower risk of metastasis and a higher chance of survival. Since GDF6 expression is very low or undetectable in most healthy adult tissues its inhibition could be used to treat this lethal disease.[11][unreliable medical source]References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000156466 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051279 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ Davidson AJ, Postlethwait JH, Yan YL, Beier DR, van Doren C, Foernzler D, Celeste AJ, Crosier KE, Crosier PS (February 1999). “Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth\/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily”. Genome Res. 9 (2): 121\u20139. doi:10.1101\/gr.9.2.121. PMID\u00a010022976.^ Chang C, Hemmati-Brivanlou A (1999). “Xenopus GDF6, a new antagonist of noggin and a partner of BMPs”. Development. 126 (15): 3347\u201357. doi:10.1242\/dev.126.15.3347. PMID\u00a010393114.^ Asai-Coakwell M, French C, Berry K, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz A, Lehmann O (2007). “GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies”. Am J Hum Genet. 80 (2): 306\u201315. doi:10.1086\/511280. PMC\u00a01785352. PMID\u00a017236135.^ Hanel M, Hensey C (2006). “Eye and neural defects associated with loss of GDF6”. BMC Dev Biol. 6: 43. doi:10.1186\/1471-213X-6-43. PMC\u00a01609107. PMID\u00a017010201.^ a b c Chang C, Hemmati-Brivanlou A (August 1999). “Xenopus GDF6, a new antagonist of noggin and a partner of BMPs”. Development. 126 (15): 3347\u201357. doi:10.1242\/dev.126.15.3347. PMID\u00a010393114.^ a b Settle SH, Rountree RB, Sinha A, Thacker A, Higgins K, Kingsley DM (February 2003). “Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes”. Dev. Biol. 254 (1): 116\u201330. doi:10.1016\/S0012-1606(02)00022-2. PMID\u00a012606286.^ Venkatesan AM, Vyas R, Gramann AK, Dresser K, Gujja S, Bhatnagar S, Chhangawala S, Gomes CB, Xi HS, Lian CG, Houvras Y, Edwards YJ, Deng A, Green M, Ceol CJ (2017). “Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanoma”. The Journal of Clinical Investigation. 128 (1): 294\u2013308. doi:10.1172\/JCI92513. PMC\u00a05749509. PMID\u00a029202482.Further reading[edit]Chiquet BT, Hashmi SS, Henry R, et\u00a0al. (2009). “Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate”. Eur. J. Hum. Genet. 17 (2): 195\u2013204. doi:10.1038\/ejhg.2008.149. PMC\u00a02874967. PMID\u00a018716610.Mazerbourg S, Sangkuhl K, Luo CW, et\u00a0al. (2005). “Identification of receptors and signaling pathways for orphan bone morphogenetic protein\/growth differentiation factor ligands based on genomic analyses”. J. Biol. Chem. 280 (37): 32122\u201332. doi:10.1074\/jbc.M504629200. PMID\u00a016049014. S2CID\u00a023693180.Storm EE, Huynh TV, Copeland NG, et\u00a0al. (1994). “Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily”. Nature. 368 (6472): 639\u201343. Bibcode:1994Natur.368..639S. doi:10.1038\/368639a0. PMID\u00a08145850. S2CID\u00a031921634.Zhang X, Li S, Xiao X, et\u00a0al. (2009). “Mutational screening of 10 genes in Chinese patients with microphthalmia and\/or coloboma”. Mol. Vis. 15: 2911\u20138. PMC\u00a02802294. PMID\u00a020057906.Erlacher L, McCartney J, Piek E, et\u00a0al. (1998). “Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis”. J. Bone Miner. Res. 13 (3): 383\u201392. doi:10.1359\/jbmr.1998.13.3.383. PMID\u00a09525338. S2CID\u00a025307046.Tassabehji M, Fang ZM, Hilton EN, et\u00a0al. (2008). “Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome”. Hum. Mutat. 29 (8): 1017\u201327. doi:10.1002\/humu.20741. PMID\u00a018425797. S2CID\u00a05276691.Wolfman NM, Hattersley G, Cox K, et\u00a0al. (1997). “Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family”. J. Clin. Invest. 100 (2): 321\u201330. doi:10.1172\/JCI119537. PMC\u00a0508194. PMID\u00a09218508.Tomaski SM, Zalzal GH (1999). “In vitro regulation of expression of cartilage-derived morphogenetic proteins by growth hormone and insulinlike growth factor 1 in the bovine cricoid chondrocyte”. Arch. Otolaryngol. Head Neck Surg. 125 (8): 901\u20136. doi:10.1001\/archotol.125.8.901. PMID\u00a010448738.Asai-Coakwell M, French CR, Ye M, et\u00a0al. (2009). “Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes”. Hum. Mol. Genet. 18 (6): 1110\u201321. doi:10.1093\/hmg\/ddp008. PMID\u00a019129173.Bobacz K, Gruber R, Soleiman A, et\u00a0al. (2002). “Cartilage-derived morphogenetic protein-1 and -2 are endogenously expressed in healthy and osteoarthritic human articular chondrocytes and stimulate matrix synthesis”. Osteoarthr. Cartil. 10 (5): 394\u2013401. doi:10.1053\/joca.2002.0522. PMID\u00a012027540.Gajavelli S, Wood PM, Pennica D, et\u00a0al. (2004). “BMP signaling initiates a neural crest differentiation program in embryonic rat CNS stem cells”. Exp. Neurol. 188 (2): 205\u201323. doi:10.1016\/j.expneurol.2004.03.026. PMID\u00a015246821. S2CID\u00a027002904.Gerhard DS, Wagner L, Feingold EA, et\u00a0al. (2004). “The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121\u20137. doi:10.1101\/gr.2596504. PMC\u00a0528928. PMID\u00a015489334.Chang SC, Hoang B, Thomas JT, et\u00a0al. (1994). “Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development”. J. Biol. Chem. 269 (45): 28227\u201334. doi:10.1016\/S0021-9258(18)46918-9. PMID\u00a07961761.Reddi AH (1995). “Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix”. Matrix Biol. 14 (8): 599\u2013606. doi:10.1016\/S0945-053X(05)80024-1. PMID\u00a09057810.Strausberg RL, Feingold EA, Grouse LH, et\u00a0al. (2002). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899\u2013903. Bibcode:2002PNAS…9916899M. doi:10.1073\/pnas.242603899. PMC\u00a0139241. PMID\u00a012477932.Shen B, Bhargav D, Wei A, et\u00a0al. (2009). “BMP-13 Emerges as a Potential Inhibitor of Bone Formation”. Int. J. Biol. Sci. 5 (2): 192\u2013200. doi:10.7150\/ijbs.5.192. PMC\u00a02646266. PMID\u00a019240811.Type IALK1 (ACVRL1)ALK2 (ACVR1A)ALK3 (BMPR1A)ALK4 (ACVR1B)ALK5 (TGF\u03b2R1)ALK6 (BMPR1B)Agonists: BMP (2, 4, 5, 6, 7, 8A, 8B, 15 (GDF9B))Dibotermin alfaEptotermin alfaGDF (5 (BMP14), 6 (BMP13), 7 (BMP12), 9, 15)RadoterminALK7 (ACVR1C)Type IITGF\u03b2R2BMPR2ACVR2A (ACVR2)Agonists: Activin (A, B, AB)BMP (2, 4, 5, 6, 7, 8A, 8B, 15 (GDF9B))Dibotermin alfaEptotermin alfaGDF (1, 3, 5 (BMP14), 6 (BMP13), 7 (BMP12), 9, 11 (BMP11), 15)Myostatin (GDF8)NodalRadoterminACVR2BAgonists: Activin (A, B, AB)BMP (2, 4, 6, 7)Dibotermin alfaEptotermin alfaGDF (1, 3, 5 (BMP14), 6 (BMP13), 7 (BMP12))Myostatin (GDF8)NodalOsteogenin (BMP3, BMP3A)RadoterminAMHR2 (AMHR)Type IIIUnsorted (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/gdf6-wikipedia\/#breadcrumbitem","name":"GDF6 – Wikipedia"}}]}]