PSPHL Rabbit Polyclonal Antibody, 50ul Cell Culture Plates Mutations in SPTAN1 are the

Mutations in SPTAN1 are the cause of early infantile epileptic encephalopathy-5

there are multiple processed pseudogenes of RPS21 dispersed through the genome

The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins

which are composed of four subunits and function as ligand-activated ion channels

PSPHL Rabbit Polyclonal Antibody, 50ul Cell Culture Plates Mutations in SPTAN1 are theThis gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B cells of complementation group A.