UniProt | Protein Name |
---|---|
Q9UJA2 |
|
GO Term | Evidence Code | PMID |
---|---|---|
response to phosphatidylethanolamine | ||
cardiolipin biosynthetic process | ||
phosphatidylglycerol acyl-chain remodeling |
|
|
response to thyroxine |
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrial inner membrane | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
1-acylglycerol-3-phosphate O-acyltransferase activity |
|
|
2-acylglycerol-3-phosphate O-acyltransferase activity |
|
|
cardiolipin synthase (CMP-forming) |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000407 | Sensorineural hearing impairment |
HP:0000639 | Nystagmus |
HP:0000710 | Hyperorality |
HP:0000863 | Central diabetes insipidus |
HP:0000873 | Diabetes insipidus |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001332 | Dystonia |
Disease ID | Disease Name |
---|---|
OMIM:620167 |
|
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: February 17, 2025