Gene
abhd12
- ID
- ZDB-GENE-060929-268
- Name
- abhydrolase domain containing 12, lysophospholipase
- Symbol
- abhd12 Nomenclature History
- Previous Names
-
- zgc:153367
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable acylglycerol lipase activity and lysophospholipase activity. Acts upstream of or within myelination; sensory system development; and swimming behavior. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in gill; gonad; liver; muscle; and nervous system. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Tingaud-Sequeira et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| PHARC syndrome | Alliance | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| PHARC syndrome | WT + MO2-abhd12 | standard conditions | Tingaud-Sequeira et al., 2017 |
| PHARC syndrome | WT + MO3-abhd12 | standard conditions | Tingaud-Sequeira et al., 2017 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Alpha/Beta hydrolase fold | Alpha/beta hydrolase fold-1 |
|---|---|---|---|
|
UniProtKB:Q08C93
|
382 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abhd12-201
(1)
|
Ensembl | 6,067 nt | ||
| mRNA |
abhd12-202
(1)
|
Ensembl | 951 nt |
Interactions and Pathways
No data available
Plasmids
No data available