UniProt | Protein Name |
---|---|
Q96N66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
layer formation in cerebral cortex | ||
lipid modification | ||
phosphatidylcholine acyl-chain remodeling | ||
ventricular system development | ||
phosphatidylinositol biosynthetic process |
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 |
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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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024