rs25640

This is a variant in the HSD17B4 gene that changes a arginine to an histidine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

bromodomain testis-specific protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.15
p 2.0e-135
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
1 submitter4 publications

Bifunctional peroxisomal enzyme deficiency (DBIF); Perrault syndrome; Perrault syndrome 1 (PRLTS1); not specified

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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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