GO Term | Evidence Code | PMID |
---|---|---|
protein insertion into mitochondrial inner membrane | ||
ceramide biosynthetic process | ||
glycerolipid metabolic process | ||
lipid phosphorylation |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
mitochondrial inner membrane | ||
cytosol |
|
|
mitochondrial membrane | ||
mitochondrial outer membrane |
|
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 |
---|---|---|---|
175732 | WB:WBGene00018674 | ||
326168 | FB:FBgn0260750 | ||
103186213 | CALMI34103 | ||
334270 | ZFIN:ZDB-GENE-030131-6202 | DANRE14288 | |
103035268 | ASTMX10268 | ||
108264378 | ICTPU28239 | ||
113573608 | ELEEL11835 | ||
106573186 | SALSA48626 | ||
115152226 | SALTR114585 | ||
115197424 | SALTR13179 |
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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