ABHD8
Abhydrolase Domain Containing 8
Gene Information Card
| Symbol | ABHD8 |
|---|---|
| Full Name | Abhydrolase Domain Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 79575 ncbi.nlm.nih.gov/gene/79575 |
| Ensembl ID | ENSG00000127220 |
| UniProt ID | Q96I27 |
| OMIM ID | 612187 |
| HGNC ID | 21339 |
| Aliases | FLJ21106, MGC131831 |
Description
ABHD8 encodes a member of the alpha/beta hydrolase superfamily. The protein contains a conserved catalytic triad and is predicted to function in lipid metabolism or signaling. Its exact biological role remains under investigation, but it is ubiquitously expressed with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Unknown | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 8.7 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 6.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
| c.100C>T | Synonymous | Rare | No effect on protein |
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)
| • hydrolase activity | • alpha/beta hydrolase fold |
| • lipid metabolic process |
Pathways
• No specific pathways curated in Reactome or KEGG
Protein Summary
ABHD8 is a 339-amino acid protein with a predicted alpha/beta hydrolase domain. It is localized to the cytoplasm and may participate in lipid catabolism or signal transduction. Structural homology suggests it may act as a serine hydrolase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD8 Knockout HEK293 Cell Line | EDJ-KQ51679 | Human | 79575 | Details Get a Quote |
| ABHD8 Knockout HeLa Cell Line | EDJ-KQ57183 | Human | 79575 | Details Get a Quote |
| ABHD8 Knockout A-549 Cell Line | EDJ-KQ65695 | Human | 79575 | Details Get a Quote |
| ABHD8 Knockout HCT 116 Cell Line | EDJ-KQ74115 | Human | 79575 | Details Get a Quote |
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