VHLL Rabbit Polyclonal Antibody, 100ul Transporters Mutations in this gene are

Mutations in this gene are also the cause of Noonan syndrome-like disorder

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

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

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

Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains

VHLL Rabbit Polyclonal Antibody, 100ul Transporters Mutations in this gene are