Literature summary for 1.14.14.16 extracted from

Felix-Lopez, X.; Riba, L.; Ordonez-Sanchez, M.L.; Ramirez-Jimenez, S.; Ventura-Gallegos, J.L.; Zentella-Dehesa, A.; Tusie-Luna, M.T.
Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236N/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein (2003), J. Pediatr. Endocrinol. Metab., 16, 1017-1024.

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Application

Application	Comment	Organism
medicine	dominant negative effect of mutant enzymes involved in congenital adrenal hyperplasia on wild-type alleles	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
I172N	naturally occuring mutant, 0-2% of wild-type activity, dominant negative effect over wild-type with 11% decrease in activity	Homo sapiens
I236N/V237E/M239K	naturally occuring mutant, no enzymic activity, dominant negative effect over wild-type with 35% decrease in activity	Homo sapiens
R356W	naturally occuring mutant, no enzymic activity, no dominant negative effect on wild-type	Homo sapiens
V281L	naturally occuring mutant, 50% of wild-type activity, dominant negative effect over wild-type with 30% decrease in activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	expression in COS-1 cells	-

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Release 2023.1 (January 2023)