abhydrolase domain containing 12, lysophospholipase
| UniProt | Protein Name |
|---|---|
| Q8N2K0 |
|
| A0A5F9ZH71 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein depalmitoylation |
|
|
| phosphatidylserine catabolic process | ||
| phosphatidylserine catabolic process | ||
| adult walking behavior | ||
| phospholipid catabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| plasma membrane | ||
| membrane | ||
| AMPA glutamate receptor complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| phospholipase activity | ||
| lysophospholipase activity | ||
| lysophospholipase activity | ||
| palmitoyl-(protein) hydrolase activity | ||
| acylglycerol lipase activity |
| Gene Ontology |
|---|
| acylglycerol lipase activity |
| monoacylglycerol catabolic process |
| phosphatidylserine catabolic process |
| InterPro |
|---|
| Alpha/Beta hydrolase fold |
| Alpha/beta hydrolase fold-1 |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080181 | PHARC syndrome |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000518 | Cataract |
| HP:0000523 | Subcapsular cataract |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| Disease ID | Disease Name |
|---|---|
| OMIM:612674 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025