41120-7
ALDOB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33551-0 ALDOB gene
The ALDOB gene (aldolase B, fructose-bisphosphate) [HGNC Gene ID:417] is located on chromosome 9q21.3-q22.2. Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] [NCBI Gene ID:229]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ALDOB gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- ALDOB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- ALDOB gene Mut Anl Bld/T
- Display Name
- ALDOB gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- ALDOB gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.63
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: ALDOB-Gen Mut.-Anal. (Fruktoseintoleranz) |
| es-ES | Spanish (Spain) | Gen ALDOB Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen ALDOB: |
| fr-FR | French (France) | ALDOB gène mutation cible trouvée: |
| it-IT | Italian (Italy) | ALDOB, gene analisi di mutazione mirata: Synonyms: Gene ALDOB Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | ALDOB 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | ALDOB-gen doelgerichte mutatie-analyse: Synonyms: ALDOB gen molgen targeted |
| pt-BR | Portuguese (Brazil) | ALDOB análise de mutação genética: Synonyms: ALDB; |
| ru-RU | Russian (Russian Federation) | ALDOB ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | ALDOB geni Mutasyon analizi: |
| zh-CN | Chinese (China) | ALDOB 基因 突变分析: Synonyms: ALDB; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=41120-7
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