ZDHHC24

protein-coding

zinc finger DHHC-type containing 24, the group of Zinc fingers DHHC-type

Gene summary

Predicted to enable protein-cysteine S-palmitoyltransferase activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_207340.3

Inheritance

—

ClinVar variants

U:39B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr11:66,520,637-66,546,235

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~25.6 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZDHHC24 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 38
not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207340.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
38
clinvar
1
clinvar
39
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total00391040
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_207340.3RefSeqNP_997223.13MANE Select
ENST00000310442.5EnsemblENSP00000309429.33MANE Select
NM_001348571.2RefSeqNP_001335500.14Standard
ENST00000526986.5EnsemblENSP00000431321.14Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • protein targeting to membrane
  • peptidyl-L-cysteine S-palmitoylation

Molecular Function

  • protein binding
  • protein-cysteine S-palmitoyltransferase activity

Cellular Component

  • endoplasmic reticulum
  • Golgi apparatus
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000310442
Coding exons
3
Length
25602
Individuals with no LoFs
125587
Homozygous LoFs
0
Heterozygous LoFs
17
Defined
125604
p
0.0000677
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.2881491590.9360.000009481717
Missense (PolyPhen)6974.2240.92962811
Synonymous0.7686977.60.8890.00000461669
Loss of Function0.74768.330.7214.09e-777

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000190.00018rare
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.0000970.000092rare
European (Non-Finnish)0.0000840.000079rare
South Asian0.0000980.000098rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.102

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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