DYRK4

Chr 12

dual specificity tyrosine phosphorylation regulated kinase 4

NCBI Gene: 8798 ENSG00000010219 UniProt: Q9NR20 OMIM: 609181

DYRK4 encodes a serine/threonine protein kinase that regulates cell differentiation, proliferation, survival, and development, with a possible role in spermiogenesis. Mutations cause autosomal dominant developmental delay with impaired language, autism spectrum disorder, and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants, suggesting intolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.51

LOEUF

—

Mechanism