4kbup_human-EPHX1

Gene Locus : human-EPHX1

Mode of mutation : Natural mutant

Disease : Familial hypercholanemia

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment : 4238T>A mutation allele I in the promotor region close to a HNF3 binding site found in a patient compound heterozygote with the 2557C>G mutation in allele II. EPHX1 protein and mRNA levels were reduced by approximately 95\% and 85\%, respectively. The 4238T>A mutation was found as a heterozygous change in 0.7\% of the subjects