Dysferlin Polyclonal Antibody, 20ul Capsule Filter The primary defect in NCL

The primary defect in NCL disorders is thought to be associated with lysosomal storage function

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EIF4EBP1 encodes one member of a family of translation repressor proteins

BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities

Dysferlin Polyclonal Antibody, 20ul Capsule Filter The primary defect in NCLThe protein encoded by DYSF (dysferlin) belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by DYSF binds caveolin 3, a skeletal muscle membrane protein which is important in the