Version 2.80

Descriptions

The HEXA gene is located on chromosome 15q23 and encodes the alpha subunit of beta-hexosaminidase, which is responsible for the degradation of GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively. Mutations in both HEXA and HEXB lead to an accumulation of GM2 gangliosides in neurons result in neurodegenerative disorders termed the GM2 gangliosidoses. HEXA mutations are associated with Tay-Sachs disease (GM2-gangliosidosis type I), and HEXB mutations are associated with Sandhoff disease (GM2-gangliosidosis type II). In their classic forms, Tay-Sachs and Sandhoff diseases are clinically indistinguishable and are characterized by the onset of progressive neurodegeneration in infancy, followed by paralysis, dementia, and death by age 3. [OMIM: 272800] Source: Regenstrief LOINC , OMIM: 272800

The HEXA gene (hexosaminidase A (alpha polypeptide)) [HGNC Gene ID:4878] is located on chromosome 15q24.1. This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009] [NCBI Gene ID:3073] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
HEXA gene
Part Display Name
HEXA gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2002-10-02
Construct for LOINC Short Name
HEXA gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP30742-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP30742-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) HEXA 基因
Synonyms: beta-N-乙酰己糖胺酶基因;beta-N-乙酰氨基已糖苷酶基因;N-乙酰基-beta-己糖胺酶基因;N-乙酰基-beta-氨基葡糖苷酶基因;N-乙酰基-β-己糖胺酶基因;N-乙酰基-β-氨基葡糖苷酶基因;Tay-Sachs 氏病;Tay-Sachs 氏症;Tay-Sachs 病;Tay-Sachs 症;TSD;β-N-乙酰己糖胺酶基因;β-N-乙酰氨基已糖苷酶基因;己糖胺酶 A (alpha 多肽)基因;己糖胺酶 A (α多肽)基因;氨基已糖苷酶 A (alpha 多肽)基因;氨基已糖苷酶 A (α多
es-ES Spanish (Spain) Gen HEXA
it-IT Italian (Italy) HEXA, gene
Synonyms: Gene HEXA
et-EE Estonian (Estonia) HEXA geen
tr-TR Turkish (Turkey) HEXA geni
ru-RU Russian (Russian Federation) HEXA ген
nl-NL Dutch (Netherlands) HEXA-gen
Synonyms: HEXA gen
el-GR Greek (Greece) Γονίδιο HEXA
Synonyms: Γονίδιο HEXA