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.

Cartilage derived morphogenetic protein 1; Cartilage-derived morphogenetic protein 1; CDMP-1; CDMP1; GDF-5; Gdf 5; GDF5_HUMAN; Growth differentiation factor 5; Growth/differentiation factor 5; LAP4; Radotermin.

Human,Mouse,Rat,Dog,Pig,Cow,Horse,Rabbit

WB

WB 1:500-2000

55kD

8200

P43026

https://www.uniprot.org/uniprotkb/P43026

Secreted.

Predominantly expressed in long bones during embryonic development.

KLH conjugated synthetic peptide derived from human CDMP1/GDF5

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.