UniProt | Protein Name |
---|---|
A0A5K1VW95 |
|
V9HWF2 |
|
P40925 |
|
GO Term | Evidence Code | PMID |
---|---|---|
malate metabolic process | ||
NADH metabolic process | ||
NADP metabolic process | ||
oxaloacetate metabolic process | ||
tricarboxylic acid cycle |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
cytoplasm | ||
centrosome | ||
extracellular space | ||
mitochondrion |
|
GO Term | Evidence Code | PMID |
---|---|---|
hydroxyphenylpyruvate reductase activity | ||
L-malate dehydrogenase activity | ||
malic enzyme activity | ||
diiodophenylpyruvate reductase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050433 | fatal familial insomnia | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050819 | obsolete Matthew-Wood syndrome | |
DOID:0110423 | dilated cardiomyopathy 1C | |
DOID:0110424 | dilated cardiomyopathy 1CC | |
DOID:0110425 | dilated cardiomyopathy 1A | |
DOID:0110426 | dilated cardiomyopathy 1D | |
DOID:0110427 | dilated cardiomyopathy 1V | |
DOID:0110428 | dilated cardiomyopathy 1AA | |
DOID:0110429 | dilated cardiomyopathy 1H |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000232 | Everted lower lip vermilion |
HP:0000253 | Progressive microcephaly |
HP:0000348 | High forehead |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0001276 | Hypertonia |
HP:0001338 | Partial agenesis of the corpus callosum |
HP:0001510 | Growth delay |
HP:0002521 | Hypsarrhythmia |
Disease ID | Disease Name |
---|---|
OMIM:618959 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179041 | WB:WBGene00018491 | ||
34414 | FB:FBgn0262782 | ||
103177941 | CALMI14184 | ||
102357680 | LATCH18020 | ||
335715 | ZFIN:ZDB-GENE-030131-7655 | DANRE12103 | |
399662 | ZFIN:ZDB-GENE-040204-1 | DANRE18223 | |
103033607 | ASTMX03263 | ||
103036835 | ASTMX11574 | ||
108258652 | ICTPU21472 | ||
108269785 | ICTPU35976 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024