MAPT Chromosome 17

Microtubule associated protein tau

62 variants 62 Health Risk

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What This Gene Does

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Protein phosphatase 1 regulatory subunits

Locus Type

gene with protein product

Location

17q21.31

Ensembl

ENSG00000186868

Associated Conditions (18)

Frontotemporal dementia

MAPT-Related Spectrum Disorders

MAPT-related disorder

Inborn genetic diseases

Semantic dementia

Progressive supranuclear palsy-parkinsonism syndrome

Alzheimer disease

Mental deterioration

Memory impairment

Dementia

Adult onset neurodegenerative disorder

Supranuclear palsy

progressive

Pick disease

Parkinson disease

late-onset

Progressive supranuclear ophthalmoplegia

Key Variants

RS115492908

Conflicting classifications of pathogenicity

Frontotemporal dementia, MAPT-Related Spectrum Disorders, Frontotemporal dementia

Health Risk

RS1247408229

Conflicting classifications of pathogenicity

Frontotemporal dementia, Frontotemporal dementia

Health Risk

RS138293088

Conflicting classifications of pathogenicity

Frontotemporal dementia, MAPT-Related Spectrum Disorders, Frontotemporal dementia

Health Risk

RS138984221

Conflicting classifications of pathogenicity

Health Risk

RS1401903524

Conflicting classifications of pathogenicity

Health Risk

RS143138715

Conflicting classifications of pathogenicity

Frontotemporal dementia, MAPT-related disorder, Frontotemporal dementia

Health Risk

RS143624519

Conflicting classifications of pathogenicity

Health Risk

RS145897970

Conflicting classifications of pathogenicity

Frontotemporal dementia, Frontotemporal dementia

Health Risk

RS148501218

Conflicting classifications of pathogenicity

Health Risk

RS150420625

Conflicting classifications of pathogenicity

Inborn genetic diseases, Frontotemporal dementia, Inborn genetic diseases

Health Risk

RS1568339821

Conflicting classifications of pathogenicity

Frontotemporal dementia, Frontotemporal dementia

Health Risk

RS199644237

Conflicting classifications of pathogenicity

Health Risk

All Variants (62)

RSID	Category	Clinical Significance	Conditions
RS63750959	Health Risk	Pathogenic	Frontotemporal dementia, Supranuclear palsy, progressive
RS63750972	Health Risk	Pathogenic	Frontotemporal dementia, Frontotemporal dementia
RS63751165	Health Risk	Pathogenic	Frontotemporal dementia, Frontotemporal dementia
RS63751264	Health Risk	Pathogenic	Pick disease, Pick disease
RS63751273	Health Risk	Pathogenic	Frontotemporal dementia, Pick disease, Parkinson disease
RS63751391	Health Risk	Pathogenic	Supranuclear palsy, progressive, 1
RS63751392	Health Risk	Pathogenic	Parkinson disease, late-onset, Progressive supranuclear palsy-parkinsonism syndrome
RS63751394	Health Risk	Pathogenic	Frontotemporal dementia, Frontotemporal dementia
RS1598408073	Health Risk	Pathogenic/Likely pathogenic	Frontotemporal dementia, Frontotemporal dementia
RS63750095	Health Risk	Pathogenic/Likely pathogenic	Frontotemporal dementia, Frontotemporal dementia
RS63750512	Health Risk	Pathogenic/Likely pathogenic	Pick disease, Frontotemporal dementia, Pick disease
RS63750568	Health Risk	Pathogenic/Likely pathogenic	Frontotemporal dementia, Frontotemporal dementia

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