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Details of HEXA gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| HEXA | --- | P06865 | HEXA_HUMAN | 3073
| ENSG00000213614
| Beta-hexosaminidase subunit alpha | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| GM2-gangliosidosis 1 (GM2G1) [MIM:272800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). Note=The disease is caused by mutations affecting the gene represented in this entry. |
272800 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Hexa | | hex-1 | Sp-Hexb |
