UniProt | Protein Name |
---|---|
P35914 |
|
GO Term | Evidence Code | PMID |
---|---|---|
ketone body biosynthetic process | ||
lipid metabolic process | ||
mitochondrion organization | ||
leucine catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol |
|
|
peroxisome | ||
mitochondrial matrix | ||
protein-containing complex | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
hydroxymethylglutaryl-CoA lyase activity | ||
magnesium ion binding | ||
manganese ion binding | ||
metal ion binding | ||
structural molecule activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050841 | focal hand dystonia | |
DOID:0060319 | cardiac arrest | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0110423 | dilated cardiomyopathy 1C | |
DOID:0110424 | dilated cardiomyopathy 1CC | |
DOID:0110426 | dilated cardiomyopathy 1D | |
DOID:0110427 | dilated cardiomyopathy 1V | |
DOID:0110428 | dilated cardiomyopathy 1AA | |
DOID:0110429 | dilated cardiomyopathy 1H | |
DOID:0110430 | dilated cardiomyopathy 1G |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000741 | Apathy |
HP:0000952 | Jaundice |
HP:0000969 | Edema |
HP:0000980 | Pallor |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
Disease ID | Disease Name |
---|---|
OMIM:246450 |
|
ORPHA:20 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
171738 | WB:WBGene00022150 | ||
33978 | FB:FBgn0031877 | ||
103188695 | CALMI39718 | ||
102365882 | LATCH18538 | ||
394190 | ZFIN:ZDB-GENE-040426-958 | DANRE11672 | |
103021565 | ASTMX11315 | ||
108269453 | ICTPU36059 | ||
113588062 | ELEEL40280 | ||
115162442 | SALTR58189 | ||
115172729 | SALTR72283 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024