Anti-AASS Antibody Picoband® Fluoro647 Conjugated

Alpha-aminoadipic semialdehyde synthase is an enzyme encoded by the AASS gene in humans and is involved in their major lysine degradation pathway. This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia.

Highly expressed in brain and weakly in heart, small intestine and uterus. Isoform 1A is mostly expressed in granular cell and molecular layer. Isoform 1B is mostly expressed in Purkinje cells. Isoform 1E is predominantly expressed in peripheral tissues as kidney, lung, trachea, colon, small intestine, stomach, bone marrow, thymus and mammary gland. .

Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways.

1. Dancis, J., Hutzler, J., Woody, N. C., Cox, R. P. Multiple enzyme defects in familial hyperlysinemia. Pediat. Res. 10: 686-691, 1976. 2. Houten, S. M., te Brinke, H., Denis, S., Ruiter, J. P. N., Knegt, A. C., de Klerk, J. B. C., Augoustides-Savvopoulou, P., Haberle, J., Baumgartner, M. R., Coskun, T., Zschocke, J., Sass, J. O., Poll-The, B. T., Wanders, R. J. A., Duran, M. Genetic basis of hyperlysinemia. Orphanet J. Rare Dis. 8: 57, 2013. Note: Electronic Article. 3. Sacksteder, K. A., Biery, B. J., Morrell, J. C., Goodman, B. K., Geisbrecht, B. V., Cox, R. P., Gould, S. J., Geraghty, M. T. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am. J. Hum. Genet. 66: 1736-1743, 2000.