Version 2.78

Description

N-acetylgalactosamine-6-sulfatase (GLANS or GalN6S) [UniProt: P34059] is a lysosomal enzyme that removes 6-sulfate groups from a terminal N-acetylgalactosamine-6-sulfate in mucopolysaccharides such as keratan sulfate and chondroitin-6-sulfate. Loss of activity of this enzyme results in an accumulation of substrates and leads to mucopolysaccharidosis IV A (MPS IV A), an autosomal recessive lysosomal storage disease. PMID: 22940367 Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
N-Acetylgalactosamine-6-Sulfatase
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
GALNS

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP14032-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) N-乙酰半乳糖胺-6-硫酸酯酶
Synonyms: GALNS;Morquio 氏病 A 型;Morquio 氏病, A 型;Morquio 病 A 型;Morquio 病, A 型;MPS VI A;N-乙酰氨基半乳糖-6-硫酸酯酶;N-乙酰软骨糖胺-6-硫酸酯酶;半乳糖-6-硫酸硫酸酯酶;芳基硫酸酯酶 B;软骨素硫酸酯酶;软骨素酶
fr-CA French (Canada) N-acétylgalactosamine-6-sulfatase
et-EE Estonian (Estonia) N-atsetüülgalaktosamiin-6-sulfataas
es-ES Spanish (Spain) N-acetilgalactosamina-6-sulfato sulfatasa
it-IT Italian (Italy) N-Acetilgalattosammina-6-Solfatasi
tr-TR Turkish (Turkey) N-asetilgalaktozamin-6-Sülfataz
ru-RU Russian (Russian Federation) N-Ацетилгалактозамин-6-Сульфатаза
nl-NL Dutch (Netherlands) N-acetylgalactosamine-6-sulfatase
fr-BE French (Belgium) N-acétylgalactosamine-6-sulfatase