Version 2.77

Description

The ACADM gene (acyl-CoA dehydrogenase, C-4 to C-12 straight chain) [HGNC Gene ID:89] is located on chromosome 1p31. This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:34] 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
ACADM gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-12-14
Construct for LOINC Short Name
ACADM gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP36419-7
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ACADM 基因
Synonyms: ACAD1;ACADM;MCAD;MCADH;酰基 CoA 脱氢酶, 中链基因;酰基辅酶 A 脱氢酶, 中链基因
et-EE Estonian (Estonia) ACADM geen
es-ES Spanish (Spain) Gen MCAD
it-IT Italian (Italy) ACADM, gene
Synonyms: Gene ACADM
tr-TR Turkish (Turkey) ACADM geni
ru-RU Russian (Russian Federation) ACADM ген
nl-NL Dutch (Netherlands) ACADM-gen
Synonyms: ACADM gen