LP36419-7
ACADM gene
Active
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
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP36419-7 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP36419-7
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | ACADM 基因 Synonyms: ACAD1; |
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 |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright