Isoforms genes encoding

Eight exons of the AR gene encode a protein of around 917 aa depending on two polymorphic regions of polyglutamines (CAG) and polyglycines (GGN) in the N-terminal activation domain. Two isoforms are detected in tissues the predominant (80%) 110 kD (B isoform) and 87 kD (A isoform). It is not clear whether the two isoforms also serve different functions. 

Kartenbeck J, Leuschner U, Mayer R, Keppler D. Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. Hepatology 1996 23(5) 1061—1066. 

Kozel, P. J. et al. Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2. /. Biol. Chem. 273 18693-18696,1998. 

Ethanal (acetaldehyde), the product of ADH and CYP action on ethanol is the substrate for isoforms of ALDH. Like ADH, ALDH isoenzymes are not entirely substrate specific and will act on aliphatic and aromatic aldehydes to generate the corresponding carboxylic acid. There are nine genes encoding ALDH isoforms and all are subject to polymorphism and the enzyme products of ALDH gene expression are found widely in... 

Mashimo, T., Lucas, M., Simon-Chazottes, D., et al. (2002) A nonsense mutation in the gene encoding 2, 5 -oligoadenylate synthetase/Ll isoform is associated with West Nile virus susceptibility in laboratory mice. Proc. Natl. Acad. Sci. U. S. A. 99, 11311-11316. 

PEO [25] A myopathy with progressive muscle weakness and external ophthalmoplegia. Ataxia, episodic ke-toacidotic coma, and early death have been reported associated with single or multiple DNA deletions. Mutations in the gene encoding the muscle isoform of the adenylate carrier (ANTI) have been reported to cause PEO, presumably due to abnormal nucleotide availability for mtDNA synthesis. 

Multiple genes encode the enzymes involved in metronidazole reduction, and the expression of their corresponding proteins during resistance development is only known for the dominant isoforms. The potential role of other isoforms of malic enzyme, PFOR, and ferredoxin in metronidazole activation is unknown. It was found that the dominant ferredoxin (ferredoxin 1), one of seven ferredoxin genes identified in the I vaginalis genome (Carlton et al. 

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