SGCD Polyclonal Antibody, 100ul Mechanical Pipette Mutations in PSAP have been

Mutations in PSAP have been associated with Gaucher disease and metachromatic leukodystrophy

HSP is characterized by progressive spasticity and paralysis of the legs

The interleukin 9 receptor encoded by IL9R is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9)

POLD1 (DNA polymerase delta 1

A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked mental retardation

SGCD Polyclonal Antibody, 100ul Mechanical Pipette Mutations in PSAP have beenThe protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin glycoprotein complex (DGC). DGC forms a link between the F actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb girdle muscular dystrophy and dilated cardiomyopathy.