IMMP2L

As a peptidase, this protein catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoding DIABLO protein.

Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. In the clinical characterization of a patient with GTS, Petek et al discovered a breakpoint in chromosome region 7q31. Additional characterization identified that IMMP2L, a novel gene coding for the apparent human homologue of the yeast mitochondrial inner membrane peptidase subunit 2, was found to be disrupted by both the breakpoint in the duplicated fragment and the insertion site in 7q31. It is the first association of IMMP2L gene to Tourette syndrome.[5] Recent investigation by Bertelsen et al. further indicated that IMMP2L was one of the genes as a susceptibility factor in disease pathogenesis. Tourette syndrome is often accompanied by comorbidities such as attention-deficit hyperactivity-disorder and obsessive compulsive disorder. Tourette syndrome has a complex etiology and the underlying environmental and genetic factors responsible for this disease are still largely unknown.[9]