Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.3.2.9 extracted from

  • Levy, D.
    The role of microsomal epoxide hydrolase, Na+-taurocholate cotransporting polypeptide, and organic anion transporting polypeptide in hepatic sodium-dependent bile acid transport (2018), Hepatology, 67, 1184-1185 .
    View publication on PubMed
Search for more literature for 3.3.2.9

Protein Variants

Protein Variants Comment Organism
additional information identification of two heterozygous mutations in gene EPHX1 intron-1, heterozygous polymorphism phenotype, overview. EPHX1 intron-1 heterozygous polymorphism are previously described in a high percentage of the Lancaster County Old Order Amish population that present numerous hypercholanemic subjects without liver injury, suggesting the loss of transport capacity. No mutations have been detected in the NTCP gene from this population Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
microsome
-
 Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens P07099
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
EPHX1
-
 Homo sapiens
epoxide hydrolase
-
 Homo sapiens
mEH
-
 Homo sapiens
microsomal
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction EPHX1 intron-1 heterozygous polymorphism in the human mEH gene (EPHX1) resulting in a 95% decrease in mEH expression. A patient exhibits a 100fold increase in serum bile acids in the absence of liver damage, suggesting a defect in transport while NTCP mRNA and protein expression levels are normal. EPHX1 intron-1 heterozygous polymorphism are previously described in a high percentage of the Lancaster County Old Order Amish population that present numerous hypercholanemic subjects without liver injury, suggesting the loss of transport capacity. No mutations have been detected in the NTCP gene from this population. The mEH intron-1 polymorphism results in a genetic predisposition for hypercholanemia and further supports the significant role of mEH in mediating hepatic sodium-dependent bile acid transport in concert with other transport mechanisms Homo sapiens
metabolism role of microsomal epoxide hydrolase, Na+-taurocholate cotransporting polypeptide, and organic anion transporting polypeptide in hepatic sodium-dependent bile acid transport Homo sapiens
physiological function microsomal epoxide hydrolase (mEH) plays a significant role in the hepatic transport of conjugated bile acids Homo sapiens