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GENATLAS PHENOTYPE |
last update : 07-02-2009 |
Symbol | HEXB |
Location | 5q13.3 |
Name | Sandhoff disease |
Other name(s) | GM2 gangliosidosis II (HEXA & B deficiency) |
Corresponding gene | HEXB |
related resource | HEXB Locus Database |
Main clinical features |
|
Genetic determination | autosomal recessive |
Related entries | including any cases of spinal muscular atrophy, juvenile |
Function/system disorder | metabolism/lysosomal |
Type | disease |
Gene product |
Name | hexosaminidases A & B, beta polypeptide (HEXB) |
Remark(s) |