ZDHHC9

Chr XX-linked

zDHHC palmitoyltransferase 9

Also known as: CGI89, CXorf11, DHHC9, MMSA1, MRXSR, MRXSZ, ZDHHC10, ZNF379

NCBI Gene: 51114 ENSG00000188706 UniProt: Q9Y397 OMIM: 300646

This gene encodes a palmitoyltransferase that adds palmitate groups to various proteins including HRAS, NRAS, and regulators of innate immunity and cell death pathways. Mutations cause X-linked intellectual developmental disorder, Raymond type, which presents as syndromic cognitive disability in males. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.479), consistent with its X-linked recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, X-linked syndromic, Raymond typeMIM #300799

X-linked

Clinical highlights

Gene-disease validity (ClinGen)

syndromic X-linked intellectual disability Raymond type · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P