LP33551-0
ALDOB gene
Active
Description
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
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
- ALDOB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-05-11
- Construct for LOINC Short Name
- ALDOB gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ALDOB 基因 Synonyms: ALDB; |
| et-EE | Estonian (Estonia) | ALDOB geen |
| es-ES | Spanish (Spain) | Gen ALDOB |
| it-IT | Italian (Italy) | ALDOB, gene Synonyms: Gene ALDOB |
| tr-TR | Turkish (Turkey) | ALDOB geni |
| ru-RU | Russian (Russian Federation) | ALDOB ген |
| nl-NL | Dutch (Netherlands) | ALDOB-gen Synonyms: ALDOB gen |
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