GDF6

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GDF6
Identifiers
Aliases GDF6, BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1, growth differentiation factor 6
External IDs OMIM: 601147 MGI: 95689 HomoloGene: 40883 GeneCards: GDF6
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001001557

NM_013526

RefSeq (protein)

NP_001001557

NP_038554.1
NP_038554

Location (UCSC) Chr 8: 96.14 – 96.16 Mb Chr 4: 9.84 – 9.86 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.[3]

Function[edit]

GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins,[4] and control eye development.[5][6]

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[7] and bone and joint formation.[8] 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.[7] GDF6 interacts with bone morphogenetic proteins (BMPs) to form heterodimers that may work to regulate neural induction and patterning in developing embryos.[7] By developing a GDF6 “knockout” 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.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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): 121–9. doi:10.1101/gr.9.2.121. PMID 10022976. 
  4. ^ Chang C, Hemmati-Brivanlou A (1999). "Xenopus GDF6, a new antagonist of noggin and a partner of BMPs". Development. 126 (15): 3347–57. PMID 10393114. 
  5. ^ 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): 306–15. doi:10.1086/511280. PMC 1785352Freely accessible. PMID 17236135. 
  6. ^ 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 1609107Freely accessible. PMID 17010201. 
  7. ^ 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): 3347–57. PMID 10393114. 
  8. ^ 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): 116–30. doi:10.1016/S0012-1606(02)00022-2. PMID 12606286. 

Further reading[edit]