STYK1

Chr 12

STY kinase 1

Also known as: NOK, SuRTK106

NCBI Gene: 55359 ENSG00000060140 UniProt: Q6J9G0

STYK1 encodes a receptor protein tyrosine kinase that regulates cell proliferation, differentiation, and survival through MAP kinase and PI3K signaling pathways. Mutations cause autosomal recessive developmental delay with variable intellectual disability and behavioral abnormalities. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.19

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)