TAOK1

Chr 17AD

TAO kinase 1

Also known as: DDIB, KFC-B, MAP3K16, MARKK, PSK-2, PSK2, TAO1, hKFC-B

NCBI Gene: 57551 ENSG00000160551 UniProt: Q7L7X3 OMIM: 610266

TAOK1 encodes a serine/threonine kinase that regulates the p38/MAPK14 stress response pathway, DNA damage checkpoints, and cytoskeleton stability, playing essential roles in neuronal development and migration in the central nervous system. Mutations cause autosomal dominant developmental delay with or without intellectual impairment or behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.274), indicating that even single functional copies are critical for normal development.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of MAPK cascade. Located in several cellular components, including microtubule cytoskeleton; nuclear body; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental delay with or without intellectual impairment or behavioral abnormalitiesMIM #619575

Clinical highlights

Gene-disease validity (ClinGen)

syndromic intellectual disability · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — TAOK1