LP420049-1
GNS gene
Active
Description
The GNS gene [HGNC Gene ID: 4422] is located on chromosome 12 at position 14.3 and encodes the N-acetylglucosamine-6-sulfatase enzyme, which is located in lysosomes and involved in the degradation of glycosaminoglycans (GAGs). Mutations in the GNS gene cause mucopolysaccharidosis type IIID (MPS IIID), or Sanfilippo syndrome type D, a rare autosomal recessive lysosomal storage disorder. The mutations lead to a reduction or elimination of functional N-acetylglucosamine-6-sulfatase.[MedlinePlus Gene: GNS] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- GNS gene
- Part Display Name
- GNS gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-08-12
- Construct for LOINC Short Name
- GNS
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP420049-1 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP420049-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | GNS, gene |
| es-ES | Spanish (Spain) | Cuerpos gelatinosos |
| zh-CN | Chinese (China) | GNS 基因 Synonyms: N-乙酰氨基葡萄糖-6-硫酸酯酶; |
| nl-NL | Dutch (Netherlands) | GNS-gen |
| el-GR | Greek (Greece) | Γονίδιο GNS Synonyms: Γονίδιο GNS |
LOINC Copyright
Copyright © 2025 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://