Anti-C5orf33/NADK2 Antibody Picoband®

This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants.

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. Hartz, P. A. Personal Communication. Baltimore, Md. 5/12/2014. 2. Houten, S. M., Denis, S., te Brinke, H., Jongejan, A., van Kampen, A. H. C., Bradley, E. J., Baas, F., Hennekam, R. C. M., Millington, D. S., Young, S. P., Frazier, D. M., Gucsavas-Calikoglu, M., Wanders, R. J. A. Mitochondrial NADP (H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum. Molec. Genet. 23: 5009-5016, 2014. 3. Ohashi, K., Kawai, S., Murata, K. Identification and characterization of a human mitochondrial NAD kinase. Nature Commun. 3: 1248, 2012. Note: Electronic Article.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.