Anti-MECR Antibody Picoband® Fluoro488 Conjugated

Trans-2-enoyl-CoA reductase, mitochondrial is an enzyme that in humans is encoded by the MECR gene. The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy.

Expressed in kidney, epidermal keratinocytes, prostate epithelial cells, bronchial and small airway lung epithelial cells (at protein level) . Expressed in malignant kidney and several carcinoma cell lines (at protein level) . Expressed in embryonic stem cells, kidney, epidermal keratinocytes, prostate epithelial cells, bronchial and small airway lung epithelial cells. Expressed in embryonal carcinomas, seminomas, malignant kidney and several carcinoma cell lines.

Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal.

1. Heimer, G., Keratar, J. M., Riley, L. G., Balasubramaniam, S., Eyal, E., Pietikainen, L. P., Hiltunen, J. K., Marek-Yagel, D., Hamada, J., Gregory, A., Rogers, C., Hogarth, P., and 24 others. MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am. J. Hum. Genet. 99: 1229-1244, 2016. 2. Liu, Z., Shimura, M., Zhang, L., Zhang, W., Wang, J., Ogawa-Tominaga, M., Wang, J., Wang, X., Lv, J., Shi, W., Zhang, V. W., Murayama, K., Fang, F. Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy. Mitochondrion 57: 222-229, 2021. 3. Miinalainen, I. J., Chen, Z.-J., Torkko, J. M., Pirila, P. L., Sormunen, R. T., Bergmann, U., Qin, Y.-M., Hiltunen, J. K. Characterization of 2-enoyl thioester reductase from mammals: an ortholog of Ybr026p/Mrf1'p of the yeast mitochondrial fatty acid synthesis type II. J. Biol. Chem. 278: 20154-20161, 2003.