embryonic growth/differentiation factor 1; GDF-1 (GDF1)

Function

• may mediate cell differentiation events during embryonic development

Structure

• homodimer; disulfide-linked (putative)
• belongs to the TGF-beta family

Compartment

secreted

Expression

expressed in the brain

Pathology

• defects in GDF1 are a cause of
  • conotruncal heart malformations
  • tetralogy of Fallot
• defects in GDF1 are the cause of transposition of the great arteries dextro-looped type 3

Genetics

• protein is produced by a bicistronic gene which also produces the LASS1 protein from a non-overlapping reading frame

More general terms

• cytokine
• glycoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2657
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2657
• OMIM: https://mirror.omim.org/entry/187500
• OMIM: https://mirror.omim.org/entry/217095
• OMIM: https://mirror.omim.org/entry/602880
• OMIM: https://mirror.omim.org/entry/613854
• UniProt: http://www.uniprot.org/uniprot/P27539.html