| Protein Name | hydroxysteroid 17-beta dehydrogenase 4 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 3295 |
| Gene Symbol | HSD17B4 |
| UniProt | P51659 (DHB4_HUMAN), A0A0S2Z4J1 (A0A0S2Z4J1_HUMAN), B2R659 (B2R659_HUMAN), B3KSP2 (B3KSP2_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
63
Total Number of Articles : 56 |
Description |
hydroxysteroid 17-beta dehydrogenase 4 |
| Gene Summary |
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] |
| synonyms |
|
| Properties | |