HSD17B4 Chromosome 5
Hydroxysteroid 17-beta dehydrogenase 4
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What This Gene Does
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]
Gene Info
Gene Group
"Short chain dehydrogenase/reductase superfamily|SCP2 domain containing"
Locus Type
gene with protein product
Location
5q23.1
Ensembl
ENSG00000133835
Associated Conditions (11)
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Perrault syndrome 1
HSD17B4-related disorder
Inborn genetic diseases
Papillary renal cell carcinoma type 1
Abnormality of the nervous system
Lung cancer
Nonpapillary renal cell carcinoma
Melanoma
Rare genetic deafness
Key Variants
RS1006852881
Conflicting classifications of pathogenicity
Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
Health Risk
RS1033649515
Conflicting classifications of pathogenicity
Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
Health Risk
RS11739468
Conflicting classifications of pathogenicity
Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
Health Risk
RS1239645507
Conflicting classifications of pathogenicity
Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Perrault syndrome
Health Risk
RS1340926346
Conflicting classifications of pathogenicity
Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
Health Risk
RS137853096
Conflicting classifications of pathogenicity
Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, HSD17B4-related disorder
Health Risk
RS137946207
Conflicting classifications of pathogenicity
Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, HSD17B4-related disorder
Health Risk
RS139348491
Conflicting classifications of pathogenicity
Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases
Health Risk
RS142889209
Conflicting classifications of pathogenicity
Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases, Perrault syndrome
Health Risk
RS1440146478
Conflicting classifications of pathogenicity
Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
Health Risk
RS145728297
Conflicting classifications of pathogenicity
Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
Health Risk
RS148189286
Conflicting classifications of pathogenicity
Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
Health Risk
All Variants (264)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1561463486 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS1748532789 | Health Risk | Likely pathogenic | — |
| RS1749873891 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS1751692890 | Health Risk | Likely pathogenic | Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome |
| RS1753477498 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS1755026740 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS1755036404 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2126684546 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2126696991 | Health Risk | Likely pathogenic | HSD17B4-related disorder, HSD17B4-related disorder |
| RS2126702600 | Health Risk | Likely pathogenic | Perrault syndrome 1, Perrault syndrome 1 |
| RS2126780815 | Health Risk | Likely pathogenic | — |
| RS2126781231 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2126806430 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Perrault syndrome 1 |
| RS2531471911 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531472105 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531495892 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency |
| RS2531496314 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531599204 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531599262 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531599299 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531599625 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531609485 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531609558 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531610056 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531610317 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency |
| RS2531619389 | Health Risk | Likely pathogenic | Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531619533 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531619631 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531619781 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531628522 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531676052 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531676170 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531676188 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531676301 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531677014 | Health Risk | Likely pathogenic | Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome |
| RS2531693459 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531705048 | Health Risk | Likely pathogenic | Perrault syndrome 1, Perrault syndrome 1 |
| RS2531723728 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531724029 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531724043 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531741634 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531741818 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531742054 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531742652 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS2531743142 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531759797 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531759953 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531760272 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency |
| RS2531790065 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS2531840596 | Health Risk | Likely pathogenic | Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |