GTR Home > Genes

GDF3 growth differentiation factor 3

Also known as: KFS3; MCOP7; MCOPCB6

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. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Klippel-Feil syndrome 3, autosomal dominant
MedGen: C3150967OMIM: 613702GeneReviews: Not available
See labs
Microphthalmia, isolated 7
MedGen: C3150969OMIM: 613704GeneReviews: Not available
See labs
Microphthalmia, isolated, with coloboma 6
MedGen: C3150968OMIM: 613703GeneReviews: Not available
See labs

Genomic context

Location:
12p13.31
Sequence:
Chromosome: 12; NC_000012.12 (7689785..7695764, complement)
Total number of exons:
2

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center