MAPT
Microtubule-associated protein tau
Gene Number: 4137
Location: 17q21.31
Key Functions: Microtubule stabilization, neuronal structure maintenance, axonal transport regulation, neurodegeneration prevention
MAPT encodes microtubule-associated protein tau, a neuronal protein that binds to and stabilizes microtubules, ensuring proper cell shape and intracellular transport. It is essential for maintaining the architecture and function of neurons, particularly in the central nervous system.
Disruptions in MAPT function can lead to tau protein misfolding and aggregation, contributing to neurodegenerative conditions such as Alzheimer’s disease, frontotemporal dementia, and other tauopathies.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs9468 | No matching variant or no valid DNA data | C | No interpretation available |
rs143624519 | No matching variant or no valid DNA data | A | No interpretation available |
rs143624519 (A152T)
GG –Normal risk; common baseline (R).
AG –~2.5× increased risk for neurodegenerative disorders (R).
AA – ~2.5× increased risk for neurodegenerative disorders (R).
Functional effect: The A allele (A152T) acts as a risk modifier—not directly pathogenic—but modestly raises susceptibility to tauopathies like Alzheimer's disease (AD), frontotemporal dementia (FTD), and dementia with Lewy bodies, likely by altering tau solubility and aggregation.
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