HEXA (hexosaminidase subunit alpha)

2009-09-01  

Identity

HGNC
LOCATION
15q23
LOCUSID
ALIAS
TSD
FUSION GENES

Other Information

Locus ID:

NCBI: 3073
MIM: 606869
HGNC: 4878
Ensembl: ENSG00000213614

Variants:

dbSNP: 3073
ClinVar: 3073
TCGA: ENSG00000213614
COSMIC: HEXA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213614ENST00000268097P06865
ENSG00000213614ENST00000268097A0A0S2Z3W3
ENSG00000213614ENST00000563762H3BRP6
ENSG00000213614ENST00000566304H3BP20
ENSG00000213614ENST00000566672H3BT62
ENSG00000213614ENST00000567027H3BU85
ENSG00000213614ENST00000567159H3BS10
ENSG00000213614ENST00000567213A0A087WTY2
ENSG00000213614ENST00000567411H3BQ04
ENSG00000213614ENST00000568260H3BVH8
ENSG00000213614ENST00000569410H3BTD4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Other glycan degradationKEGGko00511
Amino sugar and nucleotide sugar metabolismKEGGko00520
Glycosaminoglycan degradationKEGGko00531
Glycosphingolipid biosynthesis - ganglio seriesKEGGko00604
Other glycan degradationKEGGhsa00511
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Glycosaminoglycan degradationKEGGhsa00531
Glycosphingolipid biosynthesis - globo and isoglobo seriesKEGGhsa00603
Glycosphingolipid biosynthesis - ganglio seriesKEGGhsa00604
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Keratan sulfate degradationKEGGhsa_M00079
Keratan sulfate degradationKEGGM00079
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Hyaluronan metabolismREACTOMER-HSA-2142845
Hyaluronan uptake and degradationREACTOMER-HSA-2160916
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate degradationREACTOMER-HSA-2022857
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
CS/DS degradationREACTOMER-HSA-2024101
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
213073792011Glomerular and tubular damage markers are elevated in patients with diabetes.56
166980362006Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.49
111700982001Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.14
216379232011Down-regulation of β-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells.13
227239442012Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.12
197323452009Regulation of putative methyl-sulphide methyltransferases in Methanosarcina acetivorans C2A.11
162129602005Identification of plasma membrane associated mature beta-hexosaminidase A, active towards GM2 ganglioside, in human fibroblasts.9
198587792010Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.8
198587792010Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.8
167107452006Activity of lysosomal exoglycosidases in human gliomas.7

Citation

Dessen P

HEXA (hexosaminidase subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51074/hexa