Hexosaminidase
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It has been suggested that Hexoaminidase be merged into this article or section. (Discuss) |
| hexosaminidase A (alpha polypeptide)
| |
| 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 |
| hexosaminidase B (beta polypeptide)
| |
| 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 |
| hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
| |
| Identifiers | |
| Symbol | HEXDC |
| Entrez | 284004 |
| HUGO | 26307 |
| 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.
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.
External links
Hydrolase: sugar hydrolases (EC 3.2) | |
|---|---|
| 3.2.1: Glycoside hydrolases | Amylase (Alpha-Amylase) - Chitinase - Lysozyme - Neuraminidase - Galactosidases (Alpha, Beta) - alpha-Mannosidase - Glucuronidase - Hyaluronidase - Pullulanase - Glucocerebrosidase - Galactosylceramidase - Alpha-N-acetylglucosaminidase - Fucosidase - Hexosaminidase - Iduronidase - Disaccharidase (Sucrase/Sucrase-isomaltase/Invertase, Maltase, Trehalase, Lactase) - Glucosidases (Cellulase, Alpha-glucosidase, Beta-glucosidase, Debranching enzyme) |
| 3.2.2: Hydrolysing N-Glycosyl compounds | DNA glycosylases: Oxoguanine glycosylase |
Sphingolipid metabolism enzymes |
|---|
| Arylsulfatase A - Ceramidase - Galactosidases (Alpha, Beta) - Galactosylceramidase - Glucocerebrosidase - Hexosaminidase - Sphingomyelin phosphodiesterase |
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
