present in Gene: HSD17B4
present in Chromosome: 5
Position on Chromosome: 119452578
Alleles of this Variant: G/A
rs1085307072 in
HSD17B4 gene and
Bifunctional peroxisomal enzyme deficiency
PMID 10748062 2000 Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.
rs1085307072 in
HSD17B4 gene and
PERRAULT SYNDROME 1
PMID 10748062 2000 Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.