LP35630-0
AMPD1 gene
Active
Description
The AMPD1 gene (adenosine monophosphate deaminase 1) [HGNC Gene ID:468] is located on chromosome 1p13. Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] [NCBI Gene ID:270] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- AMPD1 gene
- Part Display Name
- AMPD1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-04-28
- Construct for LOINC Short Name
- AMPD1 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=LP35630-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | AMPD1 基因 Synonyms: MAD; |
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