UniProt | Protein Name |
---|---|
B0YJ81 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fatty acid elongation | ||
very long-chain fatty acid biosynthetic process | ||
sphingolipid biosynthetic process | ||
long-chain fatty-acyl-CoA biosynthetic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity | ||
3-hydroxyacyl-CoA dehydratase activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0040084 | Streptococcus pneumonia | |
DOID:0050431 | arrhythmogenic right ventricular cardiomyopathy | |
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0050746 | mantle cell lymphoma | |
DOID:0060180 | colitis | |
DOID:0060189 | ileitis | |
DOID:0060190 | ileocolitis | |
DOID:0060249 | scoliosis | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000218 | High palate |
HP:0000276 | Long face |
HP:0000347 | Micrognathia |
HP:0000602 | Ophthalmoplegia |
HP:0000678 | Dental crowding |
HP:0000767 | Pectus excavatum |
HP:0001252 | Hypotonia |
HP:0001270 | Motor delay |
HP:0001284 | Areflexia |
Disease ID | Disease Name |
---|---|
OMIM:619967 |
|
ORPHA:2020 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
188513 | WB:WBGene00020517 | ||
34614 | FB:FBgn0032394 | ||
102357175 | LATCH11461 | ||
553326 | ZFIN:ZDB-GENE-170413-2 | DANRE41680 | |
103025300 | ASTMX14038 | ||
108268178 | ICTPU32118 | ||
113591647 | ELEEL47163 | ||
106578705 | SALSA91893 | ||
106590135 | SALSA119715 | ||
115154505 | SALTR01398 |
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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: August 19, 2024