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Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Summary
- Definition
- A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
- Super Class
- autosomal dominant disease frontotemporal dementia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 18 | ABAT | 4-aminobutyrate aminotransferase | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 240 | ALOX5 | arachidonate 5-lipoxygenase | |
| 847 | CAT | catalase | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1118 | CHIT1 | chitinase 1 | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00187 | Mannan-binding lectin serine protease 2 | |
| O00451 | GDNF family receptor alpha-2 | |
| O94923 | D-glucuronyl C5-epimerase | |
| P04040 | Catalase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein | |
| P07602 | Prosaposin | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P12821 | Angiotensin-converting enzyme | |
| P22303 | Acetylcholinesterase |
