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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 |
|---|---|---|---|
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
| 10747 | MASP2 | MBL associated serine protease 2 | |
| 23098 | SARM1 | sterile alpha and TIR motif containing 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 26035 | GLCE | glucuronic acid epimerase | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
| 84750 | FUT10 | fucosyltransferase 10 |
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 |
