DSTYK

Chr 1ADAR

dual serine/threonine and tyrosine protein kinase

Also known as: CAKUT1, DustyPK, HDCMD38P, RHDNS1, RIP5, RIPK5, SPG23

NCBI Gene: 25778 ENSG00000133059 OMIM: 612666

This dual serine/threonine and tyrosine protein kinase acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor receptor activation and regulates both caspase-dependent apoptosis and caspase-independent cell death pathways. Mutations cause autosomal recessive spastic paraplegia 23 and congenital anomalies of kidney and urinary tract, as well as autosomal dominant forms of renal and urinary tract malformations. The gene shows significant constraint against loss-of-function variants (LOEUF 0.37), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismAD/ARLOEUF 0.372 OMIM phenotypes

Clinical Summary— DSTYK

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Gene-Disease Validity (ClinGen)

complex hereditary spastic paraplegia · ARModerate

Moderate evidence — consider for supplementary testing

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.51) — some intolerance to loss-of-function variants.

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