UniProt | Protein Name |
---|---|
Q8N2K0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
monoacylglycerol catabolic process | ||
protein depalmitoylation | ||
phospholipid catabolic process | ||
glycerophospholipid catabolic process | ||
arachidonic acid metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
dendrite cytoplasm | ||
AMPA glutamate receptor complex | ||
plasma membrane | ||
membrane | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
lysophospholipase activity | ||
phospholipase activity | ||
acylglycerol lipase activity | ||
palmitoyl-(protein) hydrolase activity |
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: February 17, 2025