Identity
HGNC
LOCATION
5q13.3
LOCUSID
ALIAS
ENC-1AS,HEL-248,HEL-S-111
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3074
MIM: 606873
HGNC: 4879
Ensembl: ENSG00000049860
Variants:
dbSNP: 3074
ClinVar: 3074
TCGA: ENSG00000049860
COSMIC: HEXB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34554397 | 2022 | Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. | 1 |
| 34554397 | 2022 | Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. | 1 |
| 33407268 | 2021 | Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. | 5 |
| 33407268 | 2021 | Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. | 5 |
| 31682993 | 2020 | Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis. | 14 |
| 31919734 | 2020 | Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature. | 2 |
| 31682993 | 2020 | Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis. | 14 |
| 31919734 | 2020 | Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature. | 2 |
| 31852446 | 2019 | Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. | 6 |
| 31852446 | 2019 | Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. | 6 |
| 28846871 | 2018 | Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes. | 1 |
| 29448188 | 2018 | Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. | 2 |
| 28846871 | 2018 | Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes. | 1 |
| 29448188 | 2018 | Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. | 2 |
| 26582265 | 2016 | Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. | 4 |
Citation
Dessen P
HEXB (hexosaminidase subunit beta)
Atlas Genet Cytogenet Oncol Haematol. 2010-01-01
Online version: http://atlasgeneticsoncology.org/gene/51273/hexb-(hexosaminidase-subunit-beta)
