NUAK2

NUAK2

NUAK2

Protein-coding gene in the species Homo sapiens


NUAK family SNF1-like kinase 2 also known as SNF1/AMP kinase-related kinase (SNARK) is an enzyme that in humans is encoded by the NUAK2 gene.[5][6] Its deficiency in humans causes anencephaly, a severe form of anterior neural tube defect that curtails brain development.[7]

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References

  1. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  4. Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, et al. (December 2020). "A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling". The Journal of Experimental Medicine. 217 (12). doi:10.1084/jem.20191561. PMC 7953732. PMID 32845958.

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