UniProt | Protein Name |
---|---|
Q16873 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cellular oxidant detoxification | ||
leukotriene metabolic process | ||
leukotriene biosynthetic process | ||
long-chain fatty acid biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
nuclear outer membrane | ||
intracellular membrane-bounded organelle |
|
|
endoplasmic reticulum | ||
nuclear membrane | ||
nuclear envelope |
GO Term | Evidence Code | PMID |
---|---|---|
enzyme activator activity | ||
leukotriene-C4 synthase activity |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001522 | Death in infancy |
HP:0001531 | Failure to thrive in infancy |
Disease ID | Disease Name |
---|---|
OMIM:614037 |
|
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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