ABHD10 Gene - Abhydrolase Domain Containing 10
A mitochondrial deacylase involved in protein deglutathionylation and metabolic regulation
Gene Information Card
| Symbol | ABHD10 |
|---|---|
| Full Name | Abhydrolase Domain Containing 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.11 |
| NCBI Gene ID | 55347 ncbi.nlm.nih.gov/gene/55347 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q9NUJ1 |
| OMIM ID | 617062 |
| HGNC ID | 21587 |
| Aliases | FLJ11273, MGC13170, ABHD10A, ABHD10B |
Description
ABHD10 (Abhydrolase Domain Containing 10) is a mitochondrial protein that belongs to the alpha/beta hydrolase superfamily. It functions as a deacylase, specifically removing glutathione adducts from proteins (deglutathionylation), thereby regulating redox-sensitive processes. The enzyme is involved in mitochondrial metabolism and has been implicated in cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease entries in OMIM, ClinVar, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.8 | Embryonic kidney cells |
| K562 | 7.2 | Leukemia cell line |
| HeLa | 6.5 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | No clinically significant mutations in ClinVar or COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not documented
Gain of Function (GOF)
Not documented
Dominant Negative (DN)
Not documented
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • mitochondrion (GO:0005739) |
| • oxidation-reduction process (GO:0055114) | • hydrolase activity (GO:0016788) |
Pathways
• No specific pathway annotations in Reactome or KEGG
Protein Summary
ABHD10 is a 319-amino acid mitochondrial hydrolase that catalyzes the deglutathionylation of proteins, reversing S-glutathionylation modifications. This activity is critical for maintaining mitochondrial redox homeostasis and regulating enzymes involved in metabolism. The protein contains an alpha/beta hydrolase fold and a catalytic triad (Ser-His-Asp).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD10 Knockout HEK293 Cell Line | EDJ-KQ12250 | Human | 55347 | Details Get a Quote |
| ABHD10 Knockout HCT 116 Cell Line | EDJ-KQ41028 | Human | 55347 | Details Get a Quote |
| ABHD10 Knockout HeLa Cell Line | EDJ-KQ41029 | Human | 55347 | Details Get a Quote |
| ABHD10 Knockout A-549 Cell Line | EDJ-KQ39792 | Human | 55347 | Details Get a Quote |
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