GO Term | Evidence Code | PMID |
---|---|---|
protein insertion into mitochondrial inner membrane | ||
ceramide biosynthetic process | ||
glycerolipid metabolic process | ||
lipid phosphorylation |
GO Term | Evidence Code | PMID |
---|---|---|
TIM22 mitochondrial import inner membrane insertion complex | ||
mitochondrial intermembrane space | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
dihydroceramide kinase activity | ||
acylglycerol kinase activity | ||
ATP-dependent diacylglycerol kinase activity | ||
ceramide kinase activity | ||
ATP binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050700 | cardiomyopathy | |
DOID:0050729 | Chanarin-Dorfman syndrome | |
DOID:0050865 | tongue squamous cell carcinoma | |
DOID:0060336 | 3-methylglutaconic aciduria | |
DOID:0080132 | Sengers syndrome | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0080335 | mitochondrial DNA depletion syndrome 12b | |
DOID:0110227 | cataract 32 multiple types | |
DOID:0110228 | cataract 8 multiple types |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000486 | Strabismus |
HP:0000501 | Glaucoma |
HP:0000512 | Abnormal electroretinogram |
HP:0000518 | Cataract |
HP:0000519 | Developmental cataract |
HP:0000545 | Myopia |
HP:0000639 | Nystagmus |
HP:0000938 | Osteopenia |
HP:0001131 | Corneal dystrophy |
Disease ID | Disease Name |
---|---|
OMIM:212350 |
|
OMIM:614691 |
|
ORPHA:1369 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
463784 | PANTR41578 | ||
100171735 | PONAB32792 | ||
482764 | CANLF04481 | ||
112906990 | VULVU32576 | ||
100469098 | AILME10301 | ||
101670275 | MUSPF17957 | ||
101092595 | FELCA04793 | ||
122212763 | PANLE22363 | ||
118900890 | BALMU11955 | ||
100064603 | HORSE32570 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024