Hexosaminidase
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| Identifiers | |
| Symbol | HEXA |
| Entrez | 3073 |
| HUGO | 4878 |
| OMIM | 606869 |
| RefSeq | NM_000520 |
| UniProt | P06865 |
| Other data | |
| EC number | 3.2.1.52 |
| Locus | Chr. 15 q24.1 |
| Identifiers | |
| Symbol | HEXB |
| Entrez | 3074 |
| HUGO | 4879 |
| 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 |
| Entrez | 284004 |
| HUGO | 26307 |
| RefSeq | NM_173620 |
| UniProt | Q8IYN4 |
| Other data | |
| Locus | Chr. 17 q25.3 |
Hexosaminidase is an autolysin enzyme involved in the hydrolysis of several molecules containing hexose.
[edit] Pathology
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.
ex. Muramidase - Cleaves β-1,4 linkages between N-Acetylmuramic Acid (NAM) and N-Acetylglutamine (NAG).
[edit] External links
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