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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hexosaminidase D
Summary
- Gene Symbol
-
- HEXD
- Aliases
-
- FLJ23825
- hexosaminidase D, cytosolic
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 284004
- HGNC
- 26307
- KEGG Gene ID
- hsa:284004
- PubChem
- 284004
- Alliance of Genome Resources
Annotation
- Keyword
-
- Alternative splicing
- Cytoplasm
- Disulfide bond
- Glycosidase
- Nucleus
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8WVB3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| hexosaminidase activity | ||
| beta-N-acetylhexosaminidase activity | ||
| N-acetyl-beta-D-galactosaminidase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060173 | Timothy syndrome | |
| DOID:0080324 | tuberous sclerosis 1 | |
| DOID:0110649 | long QT syndrome 8 | |
| DOID:11119 | Gilles de la Tourette syndrome | |
| DOID:13515 | tuberous sclerosis | |
| DOID:14323 | Marfan syndrome | |
| DOID:3320 | Tay-Sachs disease | |
| DOID:3321 | GM2 gangliosidosis | |
| DOID:3323 | Sandhoff disease | |
| DOID:4078 | tricuspid valve stenosis |
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP006624
- Gene Name
- hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 178951 | WB:WBGene00015767 | ||
| 181586 | WB:WBGene00013497 | ||
| 189716 | WB:WBGene00012663 | ||
| 245995 | WB:WBGene00021766 | ||
| 42178 | FB:FBgn0028499 | ||
| 565372 | ZFIN:ZDB-GENE-060929-448 | DANRE03853 | |
| 541364 | ZFIN:ZDB-GENE-050320-57 | ||
| 103033683 | ASTMX01555 | ||
| 113579416 | ELEEL23956 | ||
| 115201243 | SALTR101955 |
