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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.
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).
External links
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Wikipedia content modification information:
- This page was last modified on 13 May 2008, at 04:30.
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