Description

The HGD gene (homogentisate 1,2-dioxygenase) [HGNC Gene ID:4892] is located on chromosome 3q13.33. This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010] [NCBI Gene ID:3081] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
HGD gene
Part Display Name
HGD gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-17
Construct for LOINC Short Name
HGD

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208417-8

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)HGD 基因
Synonyms: 尿黑酸 1,2-双加氧酶;尿黑酸氧化酶;尿黑酸加氧酶;5-二羟苯乙酸氧化酶;高龙胆酸酶;Homogentisate 1,2-Dioxygenase;Homogentisic Acid Oxidase;Homogentisate Oxygenase;Homogentisate Oxidase;Homogentisicase;EC 1.13.11.5;HGO
es-ESSpanish (Spain)Gen HGD
it-ITItalian (Italy)HGD, gene
Synonyms: Gene HGD
nl-NLDutch (Netherlands)HGD-gen
Synonyms: HGD gen
fr-FRFrench (France)HGD gène
pl-PLPolish (Poland)HGD gen
Synonyms: Gen HGD
el-GRGreek (Greece)Γονίδιο HGD
Synonyms: Γονίδιο HGD