PARVA Rabbit Polyclonal Antibody, 20ul Enzyme Activity Assays Mutations in EIF2AK3 are associated

Mutations in EIF2AK3 are associated with Wolcott-Rallison syndrome

is a 348 amino acid protein that is encoded by a gene which maps to chromosome 19

Multiple transcript variants encoding different isoforms have been found for EIF2S2

cytoplasmic dynein

and mutations in SLC1A1 are thought to cause dicarboxylicamino aciduria

PARVA Rabbit Polyclonal Antibody, 20ul Enzyme Activity Assays Mutations in EIF2AK3 are associatedThis gene encodes a member of the parvin family of actin binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin linked kinase signaling complex and plays a role in cell adhesion motility and survival.