ABHD17A

protein-coding

abhydrolase domain containing 17A, depalmitoylase, the group of Depalmitoylases|Abhydrolase domain containing

Gene summary

Enables palmitoyl-(protein) hydrolase activity. Involved in negative regulation of NLRP3 inflammasome complex assembly; protein depalmitoylation; and protein localization to membrane. Located in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C19orf27
FAM108A1

MANE transcript

NM_001130111.2

Inheritance

—

ClinVar variants

U:46B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr19:1,876,810-1,885,496

External References & Databases

Ensembl (ENSG00000129968)

Transcript & Mutation Effects

hg38 • Region Span ~8.7 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 ABHD17A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 54

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001130111.2. 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 clinvar	1 clinvar		2
missense			43 clinvar	2 clinvar		45
nonsense						0
start loss						0
frameshift				2 clinvar		2
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	46	5	0	51

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001130111.2	RefSeq	NP_001123583.1	4	MANE Select
ENST00000292577.12	Ensembl	ENSP00000292577.6	4	MANE Select
NM_031213.4	RefSeq	NP_112490.3	5	Standard
ENST00000250974.10	Ensembl	ENSP00000250974.9	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein depalmitoylation
protein palmitoylation
protein localization to membrane
regulation of postsynapse organization
negative regulation of protein localization to microtubule

Molecular Function

protein binding
palmitoyl-(protein) hydrolase activity

Cellular Component

plasma membrane
endosome membrane
membrane
cell junction
dendritic spine

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000250974
Coding exons: 5
Length: 8738
Individuals with no LoFs: 125246
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125250
p: 0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.50	179	245	0.731	0.0000168	2276
Missense (PolyPhen)		33	82.779	0.39865		809
Synonymous	0.0673	119	120	0.992	0.00000971	750
Loss of Function	2.07	5	13.1	0.382	5.60e-7	146

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000019	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards NRAS (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). May have depalmitoylating activity towards MAP6 (By similarity). {ECO:0000250|UniProtKB:Q5XIJ5, ECO:0000269|PubMed:26701913}.;

Recessive Scores

pRec: 0.112

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium