Version 2.80

Description

Beta-hexosaminidase subunit alpha (HEXA) is responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.[UniProt: P06965] Reduced or absent levels of HEXA and accumulation of GM2 gangliosides in the neuronal cells is characteristic of GM2-gangliosidosis 1 (GM2G1), and autosomal recessive lysosomal storage disease that leads to neurodegeneration and, in the infantile form, death in early childhood.[OMIM: 272800] Source: Regenstrief LOINC

Basic Part Properties

Part Name
Beta-N-acetylhexosaminidase.A
Part Display Name
Beta-N-acetylhexosaminidase.A
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
Hexosaminidase A

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP14296-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) Beta-N-乙酰己糖胺酶.A
Synonyms: Beta-N-乙酰己糖胺酶 A;Beta-N-乙酰氨基己糖苷酶 A;Beta-N-乙酰氨基己糖苷酶.A;Hex A;Sandoff 氏病;Sandoff 病;β-N-乙酰己糖胺酶 A;β-N-乙酰己糖胺酶.A;β-N-乙酰氨基己糖苷酶 A;β-N-乙酰氨基己糖苷酶.A;己糖胺酶 A;己糖胺酶.A;氨基己糖苷酶 A;氨基己糖苷酶.A
es-ES Spanish (Spain) Beta-N-acetilhexosaminidasa.A
it-IT Italian (Italy) Beta-N-acetilesosaminidasi.A
et-EE Estonian (Estonia) Beeta-N-atsetüülheksosaminidaas.A
tr-TR Turkish (Turkey) Beta-N-asetilhekzosaminidaz.A
ru-RU Russian (Russian Federation) Бета-N-Ацетилгексозаминидаза.А
fr-BE French (Belgium) Béta-N-acétylhexosaminidase.A
fr-CA French (Canada) Bêta-N-acétylhexosaminidase.A
nl-NL Dutch (Netherlands) bèta-N-acetylhexosaminidase.A
Synonyms: Beta-N-acetylhexosaminidase.A
el-GR Greek (Greece) β-N-ακετυλοεξοζαμινιδάση.Α
Synonyms: β-N-ακετυλοεξοζαμινιδάση.Α