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GDF6 growth differentiation factor 6 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001001557 Homo sapiens growth differentiation factor 6 (GDF6), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 TBD

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Gene Symbol GDF6
Entrez Gene ID 392255
Full Name growth differentiation factor 6
Synonyms BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1
General protein information
Preferred Names
growth/differentiation factor 6
Names
growth/differentiation factor 6
GDF-6
Klippel-Feil syndrome
Klip-Feil malformation
Klippel-Feil malformation
growth/differentiation factor 16
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8q22.1

Summary This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008].
Disorder

MIM: 601147

Klippel-Feil syndrome 1, autosomal dominant, 118100 (3);

mRNA Protein Product Sequence Price Select
NM_001001557, 188219580 NP_001001557, 48475062 growth/differentiation factor 6 precursor ORF Sequence $360.00
KEGG
hsa04350TGF-beta signaling pathway
hsa04390Hippo signaling pathway
Homo sapiens (human)GDF6NP_001001557.1
Pan troglodytes (chimpanzee)GDF6XP_003311926.1
Macaca mulatta (Rhesus monkey)GDF6XP_001090825.1
Bos taurus (cattle)GDF6NP_001001140.1
Mus musculus (house mouse)Gdf6NP_038554.1
Rattus norvegicus (Norway rat)Gdf6NP_001013056.1
Danio rerio (zebrafish)gdf6aNP_001153466.1
Xenopus (Silurana) tropicalis (western clawed frog)gdf6NP_001016077.1
Process
IDNameEvidence
GO:0006915apoptotic processISS
GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylationIDA
GO:0030509BMP signaling pathwayIDA
GO:0032924activin receptor signaling pathwayIDA
GO:0040007growthIEA
GO:0045666positive regulation of neuron differentiationIEA
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0060389pathway-restricted SMAD protein phosphorylationIDA
GO:1990009retinal cell apoptotic processISS
Component
IDNameEvidence
GO:0005615extracellular spaceIEA
Function
IDNameEvidence
GO:0005125cytokine activityIEA
GO:0008083growth factor activityIEA
GO:0042803protein homodimerization activityIEA
GeneCards GDF6
UniProt Q6KF10
Vega OTTHUMG00000164710
MIM 601147
Ensembl ENSG00000156466
HGNC 4221
HPRD 11002

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GDF6 gene?

The GDF6 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF6 protein belongs to the bone morphogenetic protein family, which is involved in regulating the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family are regulators of cell growth and differentiation in both embryonic and adult tissue. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs. The protein is involved in setting up boundaries between bones during skeletal development.

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