Product Overview
Description
CLPP-00150577 is recombinant human DMD protein
Applications
ELISA, SDS-PAGE, Western Blot
Protein Length
Protein fragment
Nature
Recombinant Protein
Sequence
EDKLILAGNALQSDSKRLESGVQFQNEAEIAGYILECENLLRQHVIDVQILIDGKYYQADQLVQRVAKLRDEIMALRNECSSVYSKGRILTTEQTKLMIS
Predicted Molecular Weight
37 kDa including tags
Target Information
Alternative Names
230 kDa bullous pemphigoid antigen; 230/240 kDa bullous pemphigoid antigen; BP230; BP240; BPA; BPAG1; Bullous pemphigoid antigen; Bullous pemphigoid antigen 1; DMH; DST; DT; Dystonia musculorum protein; Hemidesmosomal plaque protein; KIAA0728
Protein Function
Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.
Involvement in Disease
Duchenne muscular dystrophy (DMD): Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. The disease is caused by variants affecting the gene represented in this entry. Becker muscular dystrophy (BMD): A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, dilated, X-linked 3B (CMD3B): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
Shipping & Handling
Constituents
0.3% Glutathione, 0.79% Tris HCl.
Shipping
Shipped on dry ice.
