ZDHHC23

Chr 3

zDHHC palmitoyltransferase 23

Also known as: DHHC-23, NIDD

NCBI Gene: 254887 ENSG00000184307 UniProt: Q8IYP9

ZDHHC23 encodes a palmitoyltransferase that adds palmitate to proteins including KCNMA1 potassium channels and NOS1, regulating their localization to plasma and synaptic membranes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and movement disorders. This gene is extremely intolerant to loss-of-function variants, indicating its critical role in normal neurodevelopment.

ResearchSummary from RefSeq, UniProt

Predicted to enable protein-cysteine S-palmitoyltransferase activity. Involved in protein localization to plasma membrane and protein palmitoylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.42

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)