Growth/Differentiation Factor 5

Alternative Names

  • GDF5
  • Cartilage-Derived Morphogenetic Protein 1
  • CDMP1
  • Lipopolysaccharide-Associated Protein 4
  • LAP4
  • LPS-Associated Protein 4
  • Bone Morphogenetic Protein 14
  • BMP14
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OMIM Number

601146

NCBI Gene ID

8200

Uniprot ID

P43026

Length

21,400 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Growth/Differentiation Factor 5

Molecular Mass

55411 Da

Amino Acid Count

501

Genomic Location

chr20:35,433,346-35,454,748

Gene Map Locus
20q11.22

Description

The protein encoded by the CDMP1 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 which is cleaved to produce a mature protein containing seven conserved cysteine residues. CDMP1 is predominantly expressed at sites of skeletal morphogenesis. Expression is normally restricted to the primordial cartilage of appendicular skeleton, with little expression in the axial skeleton such as vertebra and ribs.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001319138.2:c.1144delOmanchr20:35434273PathogenicPathogenicChondrodysplasia, Grebe TypeNG_008076.3:g.25476del; NM_001319138.2:c.1144del; NP_000548.2:p.Ala382fs1568731526623302
NM_001319138.2:c.1285T>CSaudi Arabiachr20:35434130PathogenicChondrodysplasia, Grebe TypeNG_008076.3:g.25617T>C; NM_001319138.1:c.1285T>C; NP_001306067.1:p.Cys429Arg
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