Perp - PERP, TP53 apoptosis effector

Acts upstream of or within several processes, including amelogenesis; desmosome organization; and intrinsic apoptotic signaling pathway by p53 class mediator. Located in Golgi apparatus and mitochondrion. Is integral component of plasma membrane. Is expressed in several structures, including alimentary system; brain ventricle and choroid plexus; limb primordium; sensory organ; and skin. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. Orthologous to human PERP (p53 apoptosis effector related to PMP22). [provided by Alliance of Genome Resources, Apr 2022]