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Gene : GDF6 Homo sapiens

Name  ? growth differentiation factor 6 Cytological Location  8q22.1
Brief Description  growth differentiation factor 6
Description  This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]
  • synonyms:
  • NM_001001557,
  • segmentation syndrome 1,
  • SYNS4,
  • uc003yhp.3,
  • KFS1,
  • CDMP2,
  • GDF6,
  • KFSL,
  • KFS,
  • OTTHUMG00000164710,
  • KFM,
  • KFS1,
  • BMP13,
  • HGNC:4221,
  • SGM1,
  • BMP13,
  • SGM1,
  • BMP-13,
  • KFS
  • identifiers:
  • 392255,
  • ENSG00000156466,
  • GDF6

Genome feature

Region: gene ? Length: 18474  
Location: 8:96142333-96160806 reverse strand Cyto location: 8q22.1


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

5 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

614 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results