Anti-DIAPH1 Antibody Picoband®

Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene. This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Cancer, Cardiovascular, Cholesterol Metabolism, Endocrine System, G Protein Signaling, Lipid and Lipoprotein Metabolism, Lipid Metabolism, Lipids/Lipoproteins, Metabolic Signaling Pathways, Metabolism, More Gpcr, Neuroscience, Neurotransmission, Pathways and Processes, Receptors / Channels, Signal Transduction, Signaling Pathway

1. Al-Maawali, A., Barry, B. J., Rajab, A., El-Quessny, M., Seman, A., Coury, S. N., Barkovich, A. J., Yang, E., Walsh, C. A., Mochida, G. H., Stoler, J. M. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am. J. Med. Genet. 170A: 435-440, 2016. 2. Carreira, S., Goodall, J., Denat, L., Rodriguez, M., Nuciforo, P., Hoek, K. S., Testori, A., Larue, L., Goding, C. R. Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. Genes Dev. 20: 3426-3439, 2006. 3. Ercan-Sencicek, A. G., Jambi, S., Franjic, D., Nishimura, S., Li, M., El-Fishawy, P., Morgan, T. M., Sanders, S. J., Bilguvar, K., Suri, M., Johnson, M. H., Gupta, A. R., Yuksel, Z., Mane, S., Grigorenko, E., Picciotto, M., Alberts, A. S., Gunel, M., Sestan, N., State, M. W. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Europ. J. Hum. Genet. 23: 165-172, 2015.

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.