LP186141-0
HEXB gene
Active
Descriptions
The HEXB gene is located on chromosome 5q13.3 and encodes the beta 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: 268800] Source: Regenstrief LOINC, OMIM: 268800
The HEXB gene (hexosaminidase B (beta polypeptide)) [HGNC Gene ID:4879] is located on chromosome 5q13. Hexosaminidase B is the beta 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. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] [NCBI Gene ID:3074] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- HEXB gene
- Part Display Name
- HEXB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-10-29
- Construct for LOINC Short Name
- HEXB gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HEXB 基因 Synonyms: 氨基己糖苷酶 B (β多肽); |
| es-ES | Spanish (Spain) | Gen HEXB |
| it-IT | Italian (Italy) | HEXB, gene Synonyms: Gene HEXB |
| tr-TR | Turkish (Turkey) | HEXB geni |
| nl-NL | Dutch (Netherlands) | HEXB-gen Synonyms: HEXB gen |
| fr-FR | French (France) | HEXB gène |
| pl-PL | Polish (Poland) | HEXB gen Synonyms: Gen HEXB |
| el-GR | Greek (Greece) | Γονίδιο HEXB Synonyms: Γονίδιο HEXB |
LOINC Copyright
Copyright © 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://