ZDHHC8

Chr 22

zDHHC palmitoyltransferase 8

Also known as: DHHC8, ZDHHCL1, ZNF378

NCBI Gene: 29801 ENSG00000099904 UniProt: Q9ULC8 OMIM: 608784

The protein functions as a palmitoyltransferase that adds palmitate to various protein substrates, including ABCA1 (regulating cholesterol transport) and potentially the D2 dopamine receptor, thereby controlling their plasma membrane localization and function. Mutations in this gene may be associated with susceptibility to schizophrenia, though definitive pediatric neurological phenotypes are not well-established. The gene is highly constrained against loss-of-function variants (pLI 0.85, LOEUF 0.37), suggesting that complete loss of function is likely deleterious.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.37

LOEUF

Multiple*

Mechanism· predicted