GDF6 growth differentiation factor 6

Gene ID: 392255, updated on 19-Sep-2024
Gene type: protein coding
Also known as: KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; SYNS4; BMP-13

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 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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Isolated microphthalmia 4 MedGen: C2751307OMIM: 613094GeneReviews: Not available	See labs
Klippel-Feil syndrome 1, autosomal dominant MedGen: C1861689OMIM: 118100GeneReviews: Not available	See labs
Leber congenital amaurosis 17 MedGen: C3715164OMIM: 615360GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	See labs
Microphthalmia, isolated, with coloboma 6 MedGen: C3150968OMIM: 613703GeneReviews: Not available	See labs
Multiple synostoses syndrome 4 MedGen: C4693531OMIM: 617898GeneReviews: Not available	See labs

Genomic context

Location:: 8q22.1

Sequence:: Chromosome: 8; NC_000008.11 (96142333..96160806, complement)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GDF6 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
GDF6 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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