B2L13 Polyclonal Antibody, 100ul Cellular Function Assays Mutations in this gene cause

Mutations in this gene cause X-linked Charcot-Marie-Tooth disease

and it is abrogated by mutations in the pleckstrin homology domain of AKT1

This gene is broadly expressed

The interaction of this protein with TRADD

Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified

B2L13 Polyclonal Antibody, 100ul Cellular Function Assays Mutations in this gene causeThis gene encodes a mitochondrially localized protein with conserved B cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene.