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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ABHD14A
abhydrolase domain containing 14A
Chromosome 3 · 3p21.2
NCBI Gene: 25864Ensembl: ENSG00000248487.11HGNC: HGNC:24538UniProt: Q9BUJ0
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmmembraneMODYtype 1 diabetes mellitusmaturity-onset diabetes of the young type 4diabetes mellitus, transient neonatal, 2
✦AI Summary

ABHD14A is a serine hydrolase family member with emerging roles in neurological development and disease susceptibility. While its precise enzymatic function remains cryptic 1, ABHD14A shows high sequence similarity to ABHD14B, a lysine deacetylase, suggesting potential deacetylase activity, though this requires functional validation 1. The gene exhibits cytoplasmic localization and is implicated in granule neuron development pathways 2. ABHD14A has been identified as a novel susceptibility gene for developmental language disorder (DLD), with compound heterozygous variants including splice-site and missense variants (Leu230Arg) that significantly affect protein stability and structure 3. Additionally, ABHD14A was identified as an autism spectrum disorder candidate gene through homozygous haplotype mapping 4. In breast cancer, ABHD14A is downregulated in tumors with visceral organ metastasis, suggesting potential involvement in metastatic processes 5. Recently, plasma ABHD14A protein was associated with incident dementia risk in the context of the MIND diet (HR: 1.23), implicating it in neural signaling and neuroprotective pathways 6. ABHD14A expression is upregulated in certain tissues when other serine hydrolases are absent 7, indicating possible redundant enzymatic roles.

Sources cited
1
ABHD14A contains rare missense and splice-site variants associated with developmental language disorder; missense variant Leu230Arg affects protein stability and structure
PMID: 39747128
2
ABHD14A is a serine hydrolase with cryptic biological function; shares high sequence similarity with ABHD14B, a lysine deacetylase
PMID: 37974539
3
ABHD14A (Dorz1) is expressed in differentiating cerebellar granule neurons and is regulated by Zic1 during cerebellar development
PMID: 14667578
4
ABHD14A is identified as an autism spectrum disorder candidate gene through homozygous haplotype mapping analysis
PMID: 21996756
5
ABHD14A is downregulated in breast cancer tumors with visceral metastasis
PMID: 30961553
6
Plasma ABHD14A protein is associated with increased incident dementia risk (HR: 1.23) and MIND diet adherence; implicated in neural signaling pathways
PMID: 40118346
7
ABHD14A expression is upregulated in tissues of BPHL knockout mice, suggesting possible redundant enzymatic function
PMID: 30121252
Disease Associationsⓘ20
MODYOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.05Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.05Suggestive
Hyperlipoproteinemia type 5Open Targets
0.05Suggestive
hyperlipoproteinemia type VOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hypertriglyceridemia 2Open Targets
0.04Suggestive
immune system diseaseOpen Targets
0.04Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 4Open Targets
0.03Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.03Suggestive
bipolar disorderOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
specific language impairmentOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABHD14BCo-mentioned in literature25%
Tissue Expression6 tissues
Brain
100%
Liver
90%
Ovary
83%
Heart
48%
Lung
42%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
ABHD14AABHD14B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BUJ0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.51–1.08]
RankingsWhere ABHD14A stands among ~20K protein-coding genes
  • #14,906of 20,598
    Most Researched17
  • #10,986of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedABHD14A
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.
PMID: 39747128
Sci Rep · 2025
1.00
2
Identification of sequence determinants for the ABHD14 enzymes.
PMID: 37974539
Proteins · 2025
0.88
3
PMID: 35027621
0.75
4
Effect of biphenyl hydrolase-like (BPHL) gene disruption on the intestinal stability, permeability and absorption of valacyclovir in wildtype and Bphl knockout mice.
PMID: 30121252
Biochem Pharmacol · 2018
0.63
5
A specific gene expression signature for visceral organ metastasis in breast cancer.
PMID: 30961553
BMC Cancer · 2019
0.50