Dubin-Johnson syndrome
OMIM:237500Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | ABCC2 |
|---|---|
| Reference transcript | NM_000392.3 |
| DNA Change | c.3449G>A |
| A.A. Change | p.Arg1150His |
| Exon/Intron | exon 25 |
| Mutation Type | substitution |
| Reference | Mor-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. |