APP is a human gene. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
This section covers genes associated with neurodegenerative diseases, including risk genes, causal mutations, and therapeutic targets. Genetic discoveries have illuminated disease mechanisms and enabled precision medicine approaches.
- APOE — Apolipoprotein E. ε4 allele increases risk 3-4x heterozygous, 12-15x homozygous.
- TREM2 — Triggering receptor on myeloid cells 2. R47H variant similar risk to one APOE ε4 allele.
- CLU — Clusterin. Complement system protein involved in Aβ clearance.
- PICALM — Phosphatidylinositol binding clathrin assembly protein. Affects APP processing.
- BIN1 — Bridging integrator 1. Modulates tau pathology.
- SNCA — Alpha-synuclein. First PD gene discovered. Point mutations and gene multiplications cause disease.
- LRRK2 — Leucine-rich repeat kinase 2. Most common genetic cause (~5% of PD).
- PARK2 — Parkin. Autosomal recessive juvenile PD.
- PARK6 — PINK1. Autosomal recessive PD, functions in mitophagy.
- DJ1 — DJ-1. Autosomal recessive PD, oxidative stress response.
- ATP13A2 — ATPase 13A2. Kufor-Rakek syndrome, atypical parkinsonism.
- GBA — Glucocerebrosidase. Most significant risk factor after LRRK2/SNCA.
- MAPT — Microtubule-associated protein tau. H1 haplotype increases PD risk.
- C9orf72 — Hexanucleotide repeat expansion. Most common cause of familial ALS/FTD.
- SOD1 — Superoxide dismutase 1. First ALS gene discovered (1993). Over 180 mutations.
- FUS — Fused in sarcoma. RNA-binding protein with aggregation propensity.
- TARDBP — TAR DNA-binding protein 43. Aggregates in most ALS/FTD cases.
- ANG — Angiogenin. Secreted RNase with neurotrophic activity.
- OPTN — Optineurin. Autophagy receptor, mutations cause glaucoma and ALS.
- UBQLN2 — Ubiquilin 2. Protein degradation, X-linked dominant.
- TBK1 — TANK-binding kinase 1. Autophagy and inflammation.
- GRN — Progranulin. Haploinsufficiency causes FTD. TDP-43 pathology.
- MAPT — Microtubule-associated protein tau. Tauopathy without Aβ.
- HTT — Huntingtin. CAG repeat expansion (>36) causes HD. Polyglutamine toxicity.
| Gene Category | Examples | Disease |
|----------------|----------|---------|
| Protein Aggregation | SNCA, MAPT, APP | AD, PD |
| RNA Processing | C9orf72, FUS, TARDBP | ALS, FTD |
| Mitochondrial Function | PARK2, PINK1, SOD1 | PD, ALS |
| Lipid Metabolism | APOE, GBA | AD, PD |
| Inflammation | TREM2, CD33 | AD |
| Protein Quality Control | UBQLN2, VCP | ALS, FTD |
Clinical genetic testing is available for many neurodegenerative disease genes:
- Diagnostic testing: Confirming clinical diagnosis
- Predictive testing: Asymptomatic at-risk individuals (controversial)
- Carrier testing: Family planning decisions
- Pharmacogenomic testing: Treatment response prediction
Genetic discoveries enable multiple therapeutic approaches:
- Gene silencing: ASO therapies (tofersen for SOD1), RNAi
- Gene replacement: AAV-delivered therapeutic genes (under development)
- Protein targeting: Small molecules and antibodies against encoded proteins
- Modulation: Modifying expression or function of risk genes
- Precision medicine: Genotype-stratified clinical trials
- Family-based studies identifying causal variants
- Successful for early-onset familial disease
- Population-based identification of risk loci
- Focus on common variants with small effect sizes
- Rare variant discovery
- Rapid gene discovery in recent years
- Functional interpretation of GWAS variants
- Tissue-specific gene regulation
- Total Pages: 3857 Genes pages in this section
- Last Updated: This section is actively maintained
See all 3857 genes pages...