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: 3073
MIM: 606869
HGNC: 4878
Ensembl: ENSG00000213614
Variants:
dbSNP: 3073
ClinVar: 3073
TCGA: ENSG00000213614
COSMIC: HEXA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36907859 | 2023 | Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. | 2 |
| 36907859 | 2023 | Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. | 2 |
| 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 |
| 33811753 | 2021 | Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. | 2 |
| 33831955 | 2021 | Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco. | 2 |
| 34288098 | 2021 | In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease. | 1 |
| 33811753 | 2021 | Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. | 2 |
| 33831955 | 2021 | Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco. | 2 |
| 34288098 | 2021 | In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease. | 1 |
| 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 |
| 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 |
| 31388111 | 2019 | Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India. | 1 |
| 31388111 | 2019 | Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India. | 1 |
| 28846871 | 2018 | Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes. | 1 |
Citation
Dessen P
HEXA (hexosaminidase subunit alpha)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51074/hexa
