Anti-GLUD1/2 Antibody Picoband® Fluoro647 Conjugated

This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X.

UDP-glucuronosyltransferase 1-1; UDPGT 1-1; UGT1*1; UGT1-01; UGT1.1; Bilirubin-specific UDPGT isozyme 1; hUG-BR1; UDP-glucuronosyltransferase 1-A; UGT-1A; UGT1A; UDP-glucuronosyltransferase 1A1; UGT1A1; GNT1; UGT1

Isoform 1 and isoform 2 are expressed in liver, colon and small intestine. Isoform 2 but not isoform 1 is expressed in kidney. Isoform 1 and isoform 2 are not expressed in esophagus. Not expressed in skin.

UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX- alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4- methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.

1. Anagnou, N. P., Seuanez, H., Modi, W., O'Brien, S. J., Papmatheakis, J., Moschonas, N. Chromosomal mapping of the human glutamate dehydrogenase (GLUD) genes to chromosomes 10q21.1-21.2 and Xq26-28. (Abstract) Am. J. Hum. Genet. 45 (suppl.) : A170 only, 1989. 2. Barbeau, A., Charbonneau, M., Cloutier, T. Leucocyte glutamate dehydrogenase in various hereditary ataxias. Canad. J. Neurol. Sci. 7: 421-424, 1980. 3. Colon, A. D., Plaitakis, A., Perakis, A., Berl, S., Clarke, D. D. Purification and characterization of a soluble and a particulate glutamate dehydrogenase from rat brain. J. Neurochem. 46: 1811-1819, 1986.