LP63593-5
PAH gene
Active
Description
The PAH gene (phenylalanine hydroxylase) [HGNC Gene ID:8582] is located on chromosome 12q22-q24.2. PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5053] 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
- PAH gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-04-25
- Construct for LOINC Short Name
- PAH 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/$lookup?system=http: //loinc.org&code=LP63593-5 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP63593-5
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PAH 基因 Synonyms: PKU; |
| et-EE | Estonian (Estonia) | PAH geen |
| es-ES | Spanish (Spain) | Gen PAH |
| it-IT | Italian (Italy) | PAH, gene Synonyms: Gene PAH |
| tr-TR | Turkish (Turkey) | PAH geni |
| ru-RU | Russian (Russian Federation) | PAH ген |
| nl-NL | Dutch (Netherlands) | PAH-gen Synonyms: PAH gen |
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