Hexosaminidase
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hexosaminidase A (alpha polypeptide)
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| Identifiers | |
| Symbol | HEXA |
| HUGO | 4878 |
| Entrez | 3073 |
| OMIM | 606869 |
| RefSeq | NM_000520 |
| UniProt | P06865 |
| Other data | |
| EC number | 3.2.1.52 |
| Locus | Chr. 15 q24.1 |
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hexosaminidase B (beta polypeptide)
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| Identifiers | |
| Symbol | HEXB |
| HUGO | 4879 |
| Entrez | 3074 |
| OMIM | 606873 |
| RefSeq | NM_000521 |
| UniProt | P07686 |
| Other data | |
| EC number | 3.2.1.52 |
| Locus | Chr. 5 q13.3 |
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hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
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| Identifiers | |
| Symbol | HEXDC |
| HUGO | 26307 |
| Entrez | 284004 |
| RefSeq | NM_173620 |
| UniProt | Q8IYN4 |
| Other data | |
| Locus | Chr. 17 q25.3 |
Hexosaminidase is an enzyme involved in the hydrolysis of several molecules containing hexose. Deficiencies cause an inability to properly hydrolyze certain sphingolipids, causing these lipids to accumulate over time in lysosomes. Disorders of Hexosaminidase are responsible for the following conditions:
- Tay-Sachs disease (type A only), lysosomes fill with GM2 gangliosides.
- Sandhoff disease (types A and B), lysosomes cannot break down globosides.
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Glycoside hydrolases: Amylase - Cellulase - Chitinase - Disaccharidase (Lactase, Maltase, Sucrase, Trehalase) - Galactosidases (Alpha, Beta) - Galactosylceramidase - Glucocerebrosidase - Glucuronidase - Hexosaminidase - Hyaluronidase - Iduronidase - Lysozyme - alpha-Mannosidase - Neuraminidase
