TNNI3K

TNNI3K

TNNI3K

Protein-coding gene in the species Homo sapiens

TNNI3 interacting kinase is a protein that in humans is encoded by the TNNI3K gene.[5]

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Function

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology.[5]

Clinical significance

Mutations in TNNI3K are associated to cardiomyopathies.[6]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000116783 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000040086 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    "Entrez Gene: TNNI3 interacting kinase".
  6. [6]
    Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM (Nov 2014). "TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy". Human Molecular Genetics. 23 (21): 5793–804. doi:10.1093/hmg/ddu297. PMC 4189907. PMID 24925317.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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