ABHD4: Abhydrolase Domain Containing 4, Lysophospholipase
A key enzyme in N-acylethanolamine and lysophospholipid metabolism
Gene Information Card
| Symbol | ABHD4 |
|---|---|
| Full Name | Abhydrolase Domain Containing 4, Lysophospholipase |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 63874 ncbi.nlm.nih.gov/gene/63874 |
| Ensembl ID | ENSG00000100427 |
| UniProt ID | Q8TB40 |
| OMIM ID | 612191 |
| HGNC ID | 21398 |
| Aliases | ABHD4, LPL, LYSOPLA, NAPE-PLD |
Description
ABHD4 (abhydrolase domain containing 4) encodes a lysophospholipase that catalyzes the hydrolysis of lysophosphatidylcholine and other lysophospholipids. It is also involved in the biosynthesis of N-acylethanolamines (NAEs), including the endocannabinoid anandamide, by converting N-acylphosphatidylethanolamine (NAPE) to N-acylethanolamine. The enzyme is expressed in multiple tissues and has been implicated in lipid metabolism, neurological function, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered ABHD4 expression may affect lipid signaling and tumor growth | COSMIC; literature |
| Neurological disorders | Dysregulation of NAE metabolism may impact neuroprotection and inflammation | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.2 | Low |
| Kidney | 6.1 | Low |
| Testis | 15.3 | Medium |
| Lung | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| HepG2 | 5.3 | Low expression |
| SH-SY5Y | 14.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.200C>T | Missense | <0.01% | Unknown |
| c.400G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lysophospholipase activity | • hydrolase activity |
| • lipid metabolic process | • N-acylethanolamine metabolic process |
| • membrane |
Pathways
• N-acylethanolamine biosynthesis
• Glycerophospholipid metabolism
Protein Summary
ABHD4 is a 339-amino acid protein belonging to the serine hydrolase family. It contains an alpha/beta hydrolase fold and a catalytic triad (Ser, Asp, His). The enzyme is membrane-associated and primarily functions as a lysophospholipase, cleaving lysophospholipids to produce free fatty acids and glycerophosphodiesters. It also participates in the conversion of NAPE to NAE, contributing to endocannabinoid signaling. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD4 Knockout HEK293 Cell Line | EDJ-KQ12249 | Human | 63874 | Details Get a Quote |
| ABHD4 Knockout A-549 Cell Line | EDJ-KQ41024 | Human | 63874 | Details Get a Quote |
| ABHD4 Knockout HCT 116 Cell Line | EDJ-KQ41025 | Human | 63874 | Details Get a Quote |
| ABHD4 Knockout HeLa Cell Line | EDJ-KQ41026 | Human | 63874 | Details Get a Quote |
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