Version 2.78

Description

The ACADS gene (acyl-CoA dehydrogenase, C-2 to C-3 short chain) [HGNC Gene ID:90] is located on chromosome 12q24.31. This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014] [NCBI Gene ID:35] 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
ACADS gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-08-08
Construct for LOINC Short Name
ACADS gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31884-7
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31884-7

Language Variants Get Info

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