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GDF1 growth differentiation factor 1

Also known as: RAI; DORV; DTGA3


This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that 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. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a bicistronic mRNA that also encodes the longevity assurance gene. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Mar 2014]

Associated conditions

See all available tests in GTR for this gene

Bilateral right-sidedness sequence
MedGen: C0175707OMIM: 208530GeneReviews: Not available
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Conotruncal heart malformations
MedGen: C1857586OMIM: 217095GeneReviews: Not available
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Tetralogy of Fallot
MedGen: C0039685OMIM: 187500GeneReviews: Not available
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Transposition of the great arteries, dextro-looped 3
MedGen: C3151221OMIM: 613854GeneReviews: Not available
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Genomic context

Chromosome: 19; NC_000019.10 (18868546..18896144, complement)
Total number of exons:


  • BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • GDF1 database
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView

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