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GDF1 growth differentiation factor 1

Also known as: RAI; DORV; DTGA3

Summary

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. 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. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
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

Location:
19p13.11
Sequence:
Chromosome: 19; NC_000019.10 (18868546..18896144, complement)
Total number of exons:
8

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