Anti-IMMP2L Antibody Picoband® FITC Conjugated

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene.

1. Boghosian-Sell, L., Comings, D. E., Overhauser, J. Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. Am. J. Hum. Genet. 59: 999-1005, 1996. 2. Burri, L., Strahm, Y., Hawkins, C. J., Gentle, I. E., Puryer, M. A., Verhagen, A., Callus, B., Vaux, D., Lithgow, T. Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane. Molec. Biol. Cell 16: 2926-2933, 2005. 3. Petek, E., Windpassinger, C., Vincent, J. B., Cheung, J., Boright, A. P., Scherer, S. W., Kroisel, P. M., Wagner, K. Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am. J. Hum. Genet. 68: 848-858, 2001.