Source: | Rabbit | Gene Id: | 8200 |
Isotype: | IgG | Swiss Prot: | |
purity: | Purified by Protein A. |
Background: |
Defects in GDF5 are the cause of acromesomelic chondrodysplasia Grebe type (AMDG) . Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs, and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.Defects in GDF5 are the cause of acromesomelic chondrodysplasia Hunter-Thompson type (AMDH). AMDH is an autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.Defects in GDF5 are the cause of brachydactyly type C (BDC). BDC is an autosomal dominant disorder characterized by an abnormal shortness of the fingers and toes. |
Reactivity | Human, Mouse, Rat |
Tested applications | WB IHC IF |
Clonality | Polyclonal Antibody |
Calculated MW | / |
Recommended Dilutions |
WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
|
Immunogen | KLH conjugated synthetic peptide derived from human CDMP1/GDF5 |
Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
Synonym | Cartilage derived morphogenetic protein 1, Cartilage-derived morphogenetic protein 1, CDMP-1, CDMP1, GDF-5, Gdf 5, GDF5_HUMAN, Growth dferentiation factor 5, Growth/dferentiation factor 5, LAP4, Radotermin. |
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