Anti-PMPCA/INPP5 Antibody Picoband® Fluoro488 Conjugated

Mitochondrial-processing peptidase subunit alpha is an enzyme that in humans is encoded by the PMPCA gene. The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2.

Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as calcium-dependent adapter for the BCR (KLHL12) complex, a complex involved in endoplasmic reticulum (ER) -Golgi transport by regulating the size of COPII coats. In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR (KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification. Its role in the heterodimer formed with PDCD6 is however unclear: some evidences show that PEF1 and PDCD6 work together and promote association between PDCD6 and SEC31 in presence of calcium. Other reports show that PEF1 dissociates from PDCD6 in presence of calcium, and may act as a negative regulator of PDCD6. Also acts as a negative regulator of ER-Golgi transport; possibly by inhibiting interaction between PDCD6 and SEC31.

1. Choquet, K., Zurita-Rendon, O., La Piana, R., Yang, S., Dicaire, M.-J., Care4Rare Consortium, Boycott, K. M., Majewski, J., Shoubridge, E. A., Brais, B., Tetreault, M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. (Letter) Brain 139: e19, 2016. Note: Electronic Article. 2. Hartz, P. A. Personal Communication. Baltimore, Md. 9/28/2009. 3. Jobling, R. K., Assoum, M., Gakh, O., Blaser, S., Raiman, J. A., Mignot, C., Roze, E., Durr, A., Brice, A., Levy, N., Prasad, C., Paton, T., and 11 others. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain 138: 1505-1517, 2015.