TAOK1 – Wikipedia

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Protein-coding gene in the species Homo sapiens

Serine/threonine-protein kinase TAO1 is an enzyme that in humans is encoded by the TAOK1 gene.[5][6][7]

Clinical significance[edit]

Mutations of the TAOK1 gene cause developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB), a condition first described in 2019.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160551 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017291 – Ensembl, May 2017
  3. ^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Apr 2000). “Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro”. DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
  6. ^ Timm T, Li XY, Biernat J, Jiao J, Mandelkow E, Vandekerckhove J, Mandelkow EM (Sep 2003). “MARKK, a Ste20-like kinase, activates the polarity-inducing kinase MARK/PAR-1”. EMBO J. 22 (19): 5090–101. doi:10.1093/emboj/cdg447. PMC 204455. PMID 14517247.
  7. ^ “Entrez Gene: TAOK1 TAO kinase 1”.

Further reading[edit]