ABHD17C
protein-codingabhydrolase domain containing 17C, depalmitoylase, the group of Depalmitoylases|Abhydrolase domain containing
Gene summary
Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in dendritic spine; postsynaptic density membrane; and recycling endosome membrane. Predicted to be active in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
- FAM108C1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~75.9 kbGenCC 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 ABHD17C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_021214.2. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 24 | 24 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 25 | 0 | 0 | 25 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_067037.1 | 3 | MANE Select | |
| Ensembl | ENSP00000258884.4 | 3 | MANE Select | |
| Ensembl | ENSP00000452778.1 | 3 | Standard | |
| Ensembl | ENSP00000452778.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein depalmitoylation
- protein palmitoylation
- regulation of postsynapse organization
- negative regulation of protein localization to microtubule
- positive regulation of protein localization to endosome
Molecular Function
- palmitoyl-(protein) hydrolase activity
Cellular Component
- postsynaptic density
- cell junction
- dendritic spine
- postsynaptic membrane
- recycling endosome membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000258884
- Coding exons
- 3
- Length
- 75938
- Individuals with no LoFs
- 115041
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 115042
- p
- 0.00000435
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 3.14 | 52 | 166 | 0.314 | 0.00000872 | 2081 |
| Missense (PolyPhen) | 7 | 58.042 | 0.1206 | 690 | ||
| Synonymous | 0.337 | 68 | 71.6 | 0.949 | 0.00000421 | 670 |
| Loss of Function | 2.91 | 0 | 9.89 | 0.00 | 5.09e-7 | 112 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000030 | 0.000030 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95. {ECO:0000269|PubMed:26701913}.;
Recessive Scores
- pRec
- 0.104
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |