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GDF5 growth differentiation factor 5

Also known as: OS5; LAP4; BDA1C; BMP14; CDMP1; LAP-4; SYM1B; SYNS2; BMP-14

Summary

The protein encoded by this gene is 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. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. These associations confirm that this gene product plays a role in skeletal development. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Acromesomelic dysplasia Hunter Thompson type
MedGen: C2930970OMIM: 201250GeneReviews: Not available
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Brachydactyly type A2
MedGen: C1832702OMIM: 112600GeneReviews: Not available
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Brachydactyly type C
MedGen: C1862103OMIM: 113100GeneReviews: Not available
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BRACHYDACTYLY, TYPE A1, C
MedGen: C3554446OMIM: 615072GeneReviews: Not available
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Fibular hypoplasia and complex brachydactyly
MedGen: C1856738OMIM: 228900GeneReviews: Not available
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Grebe syndrome
MedGen: C0265260OMIM: 200700GeneReviews: Not available
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Multiple synostoses syndrome 2
MedGen: C1832708OMIM: 610017GeneReviews: Not available
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Osteoarthritis of hip
MedGen: C0029410OMIM: 612400GeneReviews: Not available
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Symphalangism, proximal, 1b
MedGen: C3809104OMIM: 615298GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
20q11.2
Sequence:
Chromosome: 20; NC_000020.11 (35433347..35441387, complement)
Total number of exons:
4

Links

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