Anti-IQCE Antibody Picoband® 0,00647 Vervoeging

IQ domain-containing protein E is a protein that in humans is encoded by the IQCE gene. Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5?% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.

IQCE

23288

Q6IPM2

Human, Mouse, Rat

E.coli-derived human IQCE recombinant protein (Position: D112-H621) . Human IQCE shares 67.1% amino acid (aa) sequence identity with mouse IQCE.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Estrada-Cuzcano, A., Etard, C., Delvallee, C., Stoetzel, C., Schaefer, E., Scheidecker, S., Geoffroy, V., Schneider, A., Studer, F, Mattioli, F., Chennen, K., Sigaudy, S., Plassard, D., Poch, O., Piton, A., Strahle, U., Muller, J., Dollfus, H. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. Hum. Mutat. 41: 240-254, 2020. 2. Kikuno, R., Nagase, T., Ishikawa, K., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 197-205, 1999. 3. Pusapati, G. V., Hughes, C. E., Dorn, K. V., Zhang, D., Sugianto, P., Aravind, L., Rohatgi, R. EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia. Dev. Cell 28: 483-496, 2014.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

6

IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.