UniProt | Protein Name |
---|---|
A0A140VK76 |
|
B3KTT6 |
|
Q16836 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of insulin secretion | ||
response to xenobiotic stimulus | ||
negative regulation of insulin secretion | ||
response to activity | ||
positive regulation of cold-induced thermogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
cytoplasm | ||
mitochondrial matrix |
|
|
mitochondrion | ||
nucleoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
transferase activity | ||
3-hydroxyacyl-CoA dehydrogenase activity | ||
NAD+ binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050700 | cardiomyopathy | |
DOID:0050782 | Zollinger-Ellison syndrome | |
DOID:0060262 | gallbladder disease | |
DOID:0070215 | familial hyperinsulinemic hypoglycemia 4 | |
DOID:0070218 | familial hyperinsulinemic hypoglycemia 2 | |
DOID:0070219 | familial hyperinsulinemic hypoglycemia 1 | |
DOID:0080108 | myoglobinuria | |
DOID:0080326 | familial hypertrophic cardiomyopathy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000580 | Pigmentary retinopathy |
HP:0000825 | Hyperinsulinemic hypoglycemia |
HP:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001270 | Motor delay |
HP:0001289 | Confusion |
HP:0001290 | Generalized hypotonia |
HP:0001319 | Neonatal hypotonia |
Disease ID | Disease Name |
---|---|
OMIM:609975 |
|
ORPHA:71212 |
|
OMIM:231530 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
181169 | WB:WBGene00007129 | ||
186222 | WB:WBGene00010035 | ||
100187496 | CIOIN08838 | ||
102353593 | LATCH02953 | ||
445121 | ZFIN:ZDB-GENE-040801-261 | DANRE17161 | |
103033308 | ASTMX13879 | ||
100528694 | ICTPU26348 | ||
113591283 | ELEEL46462 | ||
105020990 | ESOLU70724 | ||
123744197 | SALSA137582 |
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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