NDEL1 Polyclonal Antibody, 50ul Supplements Alternative splicing of the C-terminal

Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups

The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein

Mutations in GYS1 are associated with muscle glycogen storage disease

converting inactive GDP-bound Rab proteins into their active GTP-bound form

It is prominently expressed in developing arteries but less so in adult vessels

NDEL1 Polyclonal Antibody, 50ul Supplements Alternative splicing of the C-terminalThis gene encodes a coiled coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X.