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

Mutations in EIF2AK3 are associated with Wolcott-Rallison syndrome

and spindle poles

The protein encoded by this gene is a member of the importin alpha family

Loss of the encoded protein results in cell proliferation and cancer formation

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.