rs760062936
This variant is located in the HSD17B4 gene.
▶ClinVar annotation
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome
View on ClinVar →About HSD17B4
The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
View all HSD17B4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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