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 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 |
|---|---|---|
| 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; |
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