LP417410-0
NAGLU gene
Active
Description
The NAGLU gene (N-acetyl-alpha-glucosaminidase) [HGNC Gene ID:7632] is located on chromosome 17q21.2. This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4669] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- NAGLU gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-13
- Construct for LOINC Short Name
- NAGLU
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP417410-0 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP417410-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | NAGLU-gen |
| zh-CN | Chinese (China) | NAGLU 基因 Synonyms: N-乙酰-α-葡萄糖苷酶基因; |
| it-IT | Italian (Italy) | NAGLU, gene |
| es-ES | Spanish (Spain) | Gen NAGLU |
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