UniProt | Protein Name |
---|---|
Q96N66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of triglyceride metabolic process | ||
phosphatidylinositol acyl-chain remodeling |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
mitochondria-associated endoplasmic reticulum membrane | ||
endoplasmic reticulum membrane |
|
|
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
1-acylglycerol-3-phosphate O-acyltransferase activity |
|
|
O-acyltransferase activity | ||
protein binding | ||
2-acylglycerol-3-phosphate O-acyltransferase activity |
|
|
lysophospholipid acyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:2043 | hepatitis B | |
DOID:2234 | focal epilepsy | |
DOID:2237 | hepatitis | |
DOID:2303 | stereotypic movement disorder | |
DOID:2481 | obsolete infantile epileptic encephalopathy | |
DOID:2848 | obsolete melancholia | |
DOID:3327 | partial motor epilepsy | |
DOID:3571 | liver cancer | |
DOID:409 | liver disease | |
DOID:4090 | agnosia |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000729 | Autistic behavior |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0001276 | Hypertonia |
HP:0001290 | Generalized hypotonia |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
Disease ID | Disease Name |
---|---|
OMIM:617188 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115397441 | SALFA31845 | ||
105809547 | PROCO24402 | ||
109074801 | CYPCA36607 | ||
109083276 | CYPCA58662 | ||
103276457 | CARSF10927 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024