ZDHHC19

Chr 3

zDHHC palmitoyltransferase 19

Also known as: DHHC19

NCBI Gene: 131540 ENSG00000163958 UniProt: Q8WVZ1 OMIM: 618671

The protein is a palmitoyltransferase that adds palmitate groups to specific proteins including RRAS and SQSTM1, regulating cell viability and autophagy pathways. Mutations cause autosomal recessive intellectual disability with seizures and macrocephaly, typically presenting in early childhood. This gene shows tolerance to loss-of-function variants in the general population, which is consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein-cysteine S-palmitoyltransferase activity. Involved in peptidyl-L-cysteine S-palmitoylation and positive regulation of aggrephagy. Located in Golgi membrane; endoplasmic reticulum; and perinucleolar compartment. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.80

LOEUF

Multiple*

Mechanism· predicted