HEXB Chromosome 5
Hexosaminidase subunit beta
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What This Gene Does
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]
Gene Info
Gene Group
Hexosaminidases
Locus Type
gene with protein product
Location
5q13.3
Ensembl
ENSG00000049860
Associated Conditions (11)
Sandhoff disease
Inborn genetic diseases
HEXB-related disorder
Sarcoma
Ovarian serous cystadenocarcinoma
adult form
Melanoma
See cases
infantile form
chronic
juvenile form
Key Variants
RS1210377071
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
RS137915238
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
RS139129900
Conflicting classifications of pathogenicity
Sandhoff disease, Inborn genetic diseases, Sandhoff disease
Health Risk
RS140607282
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
RS140627230
Conflicting classifications of pathogenicity
Sandhoff disease, HEXB-related disorder, Sandhoff disease
Health Risk
RS146572414
Conflicting classifications of pathogenicity
Sandhoff disease, Sarcoma, Ovarian serous cystadenocarcinoma
Health Risk
RS1749652995
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sandhoff disease, Inborn genetic diseases
Health Risk
RS201428805
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
RS2112129385
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
RS2112156345
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
RS2112171931
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
RS2478773732
Conflicting classifications of pathogenicity
Sandhoff disease, Sandhoff disease
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764552042 | Health Risk | Pathogenic | Sandhoff disease, Sandhoff disease |
| RS768438206 | Health Risk | Pathogenic | Sandhoff disease, infantile form, Sandhoff disease |
| RS770417825 | Health Risk | Pathogenic | Sandhoff disease, Sandhoff disease |
| RS771973471 | Health Risk | Pathogenic | Sandhoff disease, Sandhoff disease |
| RS776476415 | Health Risk | Pathogenic | Sandhoff disease, Sandhoff disease |
| RS778501777 | Health Risk | Pathogenic | Sandhoff disease, Sandhoff disease |
| RS797044644 | Health Risk | Pathogenic | Sandhoff disease, Sandhoff disease |
| RS886039499 | Health Risk | Pathogenic | Sandhoff disease, Sandhoff disease |
| RS1114167287 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS1198764997 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS121907985 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, chronic, Sandhoff disease |
| RS1291555996 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS1309123671 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS1324338803 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS1361998528 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS138914144 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, See cases, Sandhoff disease |
| RS1554036641 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS1554037170 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS1748943719 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS1749812910 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS201580118 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, juvenile form, Inborn genetic diseases |
| RS2112135868 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS2112180987 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS2478695232 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS2478771891 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS2478771904 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS28942073 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, juvenile form, adult form |
| RS373979283 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS398123446 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS5030731 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, infantile form, Sandhoff disease |
| RS751592419 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS753823903 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS761117459 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS761240717 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS762892362 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS771103635 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS775920504 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS777853621 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS779328596 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |
| RS892920643 | Health Risk | Pathogenic/Likely pathogenic | Sandhoff disease, Sandhoff disease |