Desmin(Phospho Ser60) Polyclonal Antibody, 100ul Syringe Filter Deficiency of this enzyme results

Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome)

Therefore| the encoded protein is thought to be an important part of functional kinetochores

The encoded protein plays a role in the formation of noncentrosomal microtubules

and expression of ERGIC3 was correlated with the differentiated degree and histological type of lung cancer (PMID: 23374247)

Desmin(Phospho Ser60) Polyclonal Antibody, 100ul Syringe Filter Deficiency of this enzyme resultsThis gene encodes a muscle specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.