LP208405-3
HSD17B4 gene
Active
Description
The HSD17B4 gene (hydroxysteroid (17-beta) dehydrogenase 4) [HGNC Gene ID:5213] is located on chromosome 5q21. 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] [NCBI Gene ID:3295] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- HSD17B4 gene
- Part Display Name
- HSD17B4 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- HSD17B4
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HSD17B4 基因 Synonyms: 羟基类固醇(17-Beta) 脱氢酶 4; |
| es-ES | Spanish (Spain) | Gen HSD17B4 |
| it-IT | Italian (Italy) | HSD17B4, gene |
| nl-NL | Dutch (Netherlands) | HSD17B4-gen Synonyms: HSD17B4 gen |
| fr-FR | French (France) | HSD17B4 gène |
| pl-PL | Polish (Poland) | HSD17B4 gen Synonyms: Gen HSD17B4 |
| el-GR | Greek (Greece) | Γονίδιο HSD17B4 Synonyms: Γονίδιο HSD17B4 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://