LP411945-1
HOGA1 gene
Active
Description
The HOGA1 gene encodes 4-hydroxy-2-oxoglutarate aldolase (HOGA), a mitochondrial enzyme found in the liver and kidney that functions in hydroxyproline metabolism by processing 4-hydroxy-2-oxoglutarate into pyruvate and glyoxylate. Mutations in the HOGA1 gene result in primary hyperoxaluria type 3 (PH3), a disease presenting in the first decade of life with kidney stones due to hyperexcretion of oxylate. The two most common HOGA1 mutations, accounting for nearly 75% of all pathogenic variants c.944_946delAGG and c.700+5G>T [MedlinePlus Gene: HOGA1]. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- HOGA1 gene
- Part Display Name
- HOGA1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-10-16
- Construct for LOINC Short Name
- HOGA1
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HOGA1 基因 Synonyms: 4-羟基-2-羟戊二酸醛缩酶 1 基因; |
| it-IT | Italian (Italy) | HOGA1, gene |
| nl-NL | Dutch (Netherlands) | HOGA1-gen |
| es-ES | Spanish (Spain) | Gen HOGA1 |
| el-GR | Greek (Greece) | Γονίδιο HOGA1 Synonyms: Γονίδιο HOGA1 |
LOINC Copyright
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