ZDHHC2

Chr 8

zDHHC palmitoyltransferase 2

Also known as: DHHC2, ZNF372

NCBI Gene: 51201 ENSG00000104219 UniProt: Q9UIJ5

The protein is a palmitoyltransferase that adds palmitate to various protein substrates, playing critical roles in synaptic plasticity, protein trafficking to membranes, and G protein-coupled receptor signaling in neurons. Biallelic mutations in this highly constrained gene (LOEUF 0.69) cause autosomal recessive intellectual disability with seizures and distinctive facial features, with onset typically in infancy or early childhood. The gene shows strong intolerance to loss-of-function variants, indicating that normal protein function is essential for neurodevelopment.

ResearchSummary from RefSeq, UniProt

Enables protein homodimerization activity and protein-cysteine S-palmitoyltransferase activity. Involved in several processes, including peptidyl-L-cysteine S-palmitoylation; protein localization to membrane raft; and synapse assembly. Located in Golgi apparatus; endoplasmic reticulum membrane; and plasma membrane. Is active in postsynaptic recycling endosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)