RHG24 Polyclonal Antibody, 20ul Buffers & Solutions and the expansion of these

and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease

This protein has been shown to phosphorylate period

further studies suggested that the gene mutations might not have a significant role in Joubert syndrome

This gene is also a candidate for several human lipodystrophy syndromes

Seems to bind protein kinase C acting as an intracellular receptor to anchor the activated PKC to the cytoskeleton

RHG24 Polyclonal Antibody, 20ul Buffers & Solutions and the expansion of theseThis gene encodes a Rho GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants.