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 have acylglycerol lipase activity and lysophospholipase activity. Involved in myelination; sensory system development; and swimming behavior. Predicted to localize to endoplasmic reticulum membrane and integral component of membrane. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Is expressed in gill; gonad; liver; muscle; and nervous system. 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