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growth/differentiation factor 5; GDF-5; cartilage-derived morphogenetic protein 1; CDMP-1; Radotermin (GDF5, CDMP1)
Function:
- could be involved in bone formation
Structure:
- homodimer; disulfide-linked (putative)
- belongs to the TGF-beta family
Compartment: secreted
Expression:
- predominantly expressed in long bones during embryonic development
Pathology:
- defects in GDF5 are the cause of
a) acromesomelic chondrodysplasia Grebe type
b) acromesomelic chondrodysplasia Hunter-Thompson type
c) brachydactyly type C
d) Du pan syndrome
e) multiple synostoses syndrome 2
- defects in GDF5 are a cause of
a) symphalangism proximal syndrome
b) brachydactyly type A2
- genetic variations in GDF5 are associated with osteoarthritis susceptibility type 5
General
growth/differentiation factor (GDF)
Properties
SIZE: entity length = 501 aa
MW = 55 kD
MOTIF: signal sequence {1-27}
N-glycosylation site {N189}
cysteine residue {C400}
MODIFICATION: cysteine residue {C466}
cysteine residue {C429}
MODIFICATION: cysteine residue {C498}
cysteine residue {C433}
MODIFICATION: cysteine residue {C500}
cysteine residue {C465}
MODIFICATION: cysteine residue {C-INTERCHAIN}
cysteine residue {C466}
MODIFICATION: cysteine residue {C400}
cysteine residue {C498}
MODIFICATION: cysteine residue {C429}
cysteine residue {C500}
MODIFICATION: cysteine residue {C433}
Database Correlations
OMIM correlations
MORBIDMAP 601146
UniProt P43026
PFAM correlations
Entrez Gene 8200
Kegg hsa:8200
References
- UniProt :accession P43026
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/GDF5
- Wikipedia; Note: GDF5 entry
http://en.wikipedia.org/wiki/GDF5