ZDHHC23
Zinc Finger DHHC-Type Palmitoyltransferase 23
Gene Information Card
| Symbol | ZDHHC23 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.31 |
| NCBI Gene ID | 254359 ncbi.nlm.nih.gov/gene/254359 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | Q8IY37 |
| OMIM ID | 617547 |
| HGNC ID | 20701 |
| Aliases | DHHC-23, ZDHHC23, MGC138290 |
Description
ZDHHC23 encodes a member of the DHHC palmitoyltransferase family, which catalyzes the addition of palmitate to cysteine residues of target proteins. This post-translational modification regulates protein localization, stability, and function. ZDHHC23 is involved in neuronal signaling and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Impaired palmitoylation of synaptic proteins | ClinVar |
| Schizophrenia | Altered palmitoylation of neurotransmitter receptors | OMIM |
| Cancer (various) | Dysregulation of palmitoylation affecting oncogenic signaling | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal model |
| HEK293 | 9.7 | Embryonic kidney |
| HepG2 | 5.4 | Hepatocellular carcinoma |
| A549 | 4.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown |
| c.457G>A (p.Gly153Ser) | Missense | <0.1% | Unknown |
| c.1120_1121del (p.Leu374fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu374fs) are predicted to truncate the protein, abolishing palmitoyltransferase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • Palmitoyltransferase activity | • Zinc ion binding |
| • Protein palmitoylation | • Membrane |
| • Synaptic vesicle membrane |
Pathways
• Protein palmitoylation
• Neuronal system
• RAS signaling
Protein Summary
ZDHHC23 is a 384-amino acid integral membrane protein with a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It localizes to the Golgi apparatus and endosomes, where it palmitoylates substrates including postsynaptic density proteins and small GTPases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC23 Knockout HEK293 Cell Line | EDJ-KQ11779 | Human | 254887 | Details Get a Quote |
| ZDHHC23 Knockout A-549 Cell Line | EDJ-KQ40184 | Human | 254887 | Details Get a Quote |
| ZDHHC23 Knockout HCT 116 Cell Line | EDJ-KQ40185 | Human | 254887 | Details Get a Quote |
| ZDHHC23 Knockout HeLa Cell Line | EDJ-KQ40186 | Human | 254887 | Details Get a Quote |
