disease 826 words KG: ent-dise-33d84bdb
Contents

mapt-variants

Disease Info
OMIM157140
InheritanceAutosomal Dominant
Gene SymbolMAPT
Full NameMicrotubule-Associated Protein Tau
Chromosomal Location17q21.31
NCBI Gene ID4137
Ensembl IDENSG00000186868
UniProt IDP10636
Exons16 (major isoform transcripts)
Protein Length352-441 amino acids (6 isoforms)
DatabasesOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (16)

Glymphatic-Mediated Tau Clearance Dysfunction
Score: 0.55
Dual-Circuit Tau Vulnerability Cascade
Score: 0.50
Dopaminergic Ventral Tegmental-Hippocampal Circuit Protectio
Score: 0.49
Cholinergic Basal Forebrain-Hippocampal Circuit Protection
Score: 0.49
Microglial-Mediated Tau Clearance Dysfunction via TREM2 Rece
Score: 0.49

Related Analyses (3)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed

Related Experiments (19)

Plasma ATN biomarkers across AD continuum in Chilean cohort
clinical · proposed · Score: 0.95
Double depletion rescue experiment: tau and MAP6 co-depletio
exploratory · proposed · Score: 0.95
Tau depletion effects on neuronal development in primary cul
exploratory · proposed · Score: 0.90
Tau depletion effects on neuronal development in primary cul
exploratory · proposed · Score: 0.90
Creation and validation of 3xAD-ChAT-Cre mouse model
validation · proposed · Score: 0.90