ZDHHC9 Chromosome X
ZDHHC palmitoyltransferase 9
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What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers DHHC-type
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000188706
Associated Conditions (4)
Inborn genetic diseases
Syndromic X-linked intellectual disability Raymond type
Autism spectrum disorder
Intellectual disability
Key Variants
RS1354331847
Conflicting classifications of pathogenicity
Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases
Health Risk
RS1927670769
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS2124105703
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS2124105757
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS755700206
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS770589013
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS773050995
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS775743190
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Raymond type, Autism spectrum disorder, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS1064793355
Likely pathogenic
Health Risk
RS1569321518
Likely pathogenic
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
Health Risk
RS1927636898
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1927638009
Likely pathogenic
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1354331847 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases |
| RS1927670769 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type |
| RS2124105703 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS2124105757 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS755700206 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS770589013 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type |
| RS773050995 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type |
| RS775743190 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Raymond type, Autism spectrum disorder, Syndromic X-linked intellectual disability Raymond type |
| RS1064793355 | Health Risk | Likely pathogenic | — |
| RS1569321518 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS1927636898 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1927638009 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS2522182895 | Health Risk | Likely pathogenic | — |
| RS2522243863 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS137852215 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS1556004792 | Health Risk | Pathogenic | — |
| RS1556004813 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556007364 | Health Risk | Pathogenic | — |
| RS1927671537 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2522207283 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS606231182 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS606231183 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS1131690786 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS137852214 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability Raymond type, Intellectual disability, Syndromic X-linked intellectual disability Raymond type |
| RS2522181867 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases |
| RS2522218770 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |