VHLL Rabbit Polyclonal Antibody, 100ul Transporters Specific mutations in DYSF have

Specific mutations in DYSF have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy

Guanylate cyclase soluble subunit alpha-3 encoded by GUCY1A3 is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme

The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region

Heterodimers consisting of alpha and gamma subunits have also been described

Eukaryotic translation initiation factor 2-alpha kinase 1encoded by EIF2AK1 acts at the level of translation initiation to downregulate protein synthesis in response to stress

VHLL Rabbit Polyclonal Antibody, 100ul Transporters Specific mutations in DYSF have