DPYSL4

Chr 10

dihydropyrimidinase like 4

ENSG00000151640 UniProt: O14531 OMIM: 608407

The protein is necessary for signaling by class 3 semaphorins and subsequent cytoskeleton remodeling, playing a role in axon guidance, neuronal growth cone collapse and cell migration. Mutations in DPYSL4 cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, presenting in infancy with seizures, severe developmental delay, and progressive microcephaly. The gene shows moderate constraint against loss-of-function variants, and the condition primarily affects the central nervous system with early onset neurological manifestations.

OMIM ResearchSummary from RefSeq, UniProt

Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity)

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.89

LOEUF

Multiple*

Mechanism· predicted