Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Dubin-Johnson syndrome

OMIM:237500
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolABCC2
Reference transcriptNM_000392.3
DNA Changec.3449G>A
A.A. Changep.Arg1150His
Exon/Intronexon 25
Mutation Typesubstitution
ReferenceMor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U.Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.
J Biol Chem. 2001 Oct 5;276(40):36923-30.