LP420048-3
HGSNAT gene
Active
Description
The HGSNAT gene [HGNC Gene ID: 26527] is located on chromosome 8 between positions 11.21 and 11.1. This gene encodes the heparan-alpha-glucosaminide N-acetyltransferase enzyme, also known as N-acetyltransferase, which is present in lysosomes and involved in the degradation of glycosaminoglycans (GAGs). Over 50 mutations have been found in the HGSNAT gene and are known to cause mucopolysaccharidosis type IIIC (MPS IIIC). The mutations lead to a reduction or elimination of functional N-acetyltransferase.[MedlinePlus Gene: HGSNAT] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- HGSNAT gene
- Part Display Name
- HGSNAT gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-08-12
- Construct for LOINC Short Name
- HGSNAT
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| fr-FR | French (France) | HGSNAT gène |
| it-IT | Italian (Italy) | HGSNAT, gene |
| nl-NL | Dutch (Netherlands) | HGSNAT-gen |
| es-ES | Spanish (Spain) | Gen HGSNAT |
| zh-CN | Chinese (China) | HGSNAT 基因 Synonyms: 乙酰肝素α-氨基葡萄糖苷N-乙酰基转移酶基因; |
| pl-PL | Polish (Poland) | HGSNAT gen Synonyms: Gen HGSNAT |
| el-GR | Greek (Greece) | Γονίδιο HGSNAT Synonyms: Γονίδιο HGSNAT |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://