ABR Rabbit Polyclonal Antibody, 50ul Cryopreservation Mutations in this gene have

Mutations in this gene have been associated with optic atrophy type 1

Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055

This gene encodes a member of the glutaredoxin family

LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells

ABR Rabbit Polyclonal Antibody, 50ul Cryopreservation Mutations in this gene haveThis gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase activating protein domain, a domain found in members of the Rho family of GTP binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene.