Gene: ZDHHC9
Alternate names for this Gene: CGI89|CXorf11|DHHC9|MMSA1|MRXSZ|ZDHHC10|ZNF379|ZNF380
Gene Summary: 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.
Gene is located in Chromosome: X
Location in Chromosome : Xq26.1
Description of this Gene: zinc finger DHHC-type palmitoyltransferase 9
Type of Gene: protein-coding
rs1556004813 in
ZDHHC9 gene and
Muscle hypotonia
PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
PMID 24357419 2014 Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
PMID 17436253 2007 Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.