Version 2.78

Description

The HADHB gene (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit) [HGNC Gene ID:4803] is located on chromosome 2p23. This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] [NCBI Gene ID:3032] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
HADHB gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
HADHB gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19715-9
ConceptMap translate
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) HADHB 基因
Synonyms: 极长链-3-羟酰基辅酶 A 脱氢酶缺乏症;极长链酰基辅酶 A 脱氢酶缺乏症;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), beta 亚单位;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), beta 亚基;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), β亚单位;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), β亚基;羟酰基
et-EE Estonian (Estonia) HADHB geen
es-ES Spanish (Spain) Gen HADHB
it-IT Italian (Italy) HADHB, gene
Synonyms: Gene HADHB
tr-TR Turkish (Turkey) HADHB geni
ru-RU Russian (Russian Federation) HADHB ген
nl-NL Dutch (Netherlands) HADHB-gen
Synonyms: HADHB gen