Version: 8.0.0Date: Tue Jan 28 2025
Gene
HSD17B4
- Species
- Homo sapiens
- Symbol
- HSD17B4
- Name
- hydroxysteroid 17-beta dehydrogenase 4
- Synonyms
- 17-beta-HSD 4
- 17-beta-HSD IV
- Biotype
- protein coding gene
- Automated Description
- Enables 3-hydroxyacyl-CoA dehydratase activity; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; and protein homodimerization activity. Involved in fatty acid beta-oxidation; fatty-acyl-CoA metabolic process; and steroid metabolic process. Located in peroxisome. Implicated in D-bifunctional protein deficiency; Perrault syndrome; and Stiff-Person syndrome.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR13078
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Sequence Feature Viewer
- Genome location
- Chr5:119452465...119637199 + (184.73 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction