UniProt | Protein Name |
---|---|
P30084 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fatty acid beta-oxidation | ||
branched-chain amino acid catabolic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrial matrix |
|
|
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
crotonyl-CoA hydratase activity | ||
enoyl-CoA hydratase activity | ||
3-hydroxypropionyl-CoA dehydratase activity | ||
delta(3)-delta(2)-enoyl-CoA isomerase activity | ||
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:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050429 | Hailey-Hailey disease | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050700 | cardiomyopathy | |
DOID:0050741 | alcohol dependence | |
DOID:0050835 | generalized dystonia | |
DOID:0050841 | focal hand dystonia | |
DOID:0060215 | Balo concentric sclerosis | |
DOID:0060260 | ptosis |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000365 | Hearing impairment |
HP:0000639 | Nystagmus |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
HP:0001332 | Dystonia |
HP:0001522 | Death in infancy |
HP:0001629 | Ventricular septal defect |
Disease ID | Disease Name |
---|---|
OMIM:616277 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
173300 | WB:WBGene00001156 | ||
176376 | WB:WBGene00001155 | ||
36536 | FB:FBgn0033879 | ||
100186995 | CIOIN06046 | ||
103182105 | CALMI02573 | ||
102356614 | LATCH06106 | ||
368912 | ZFIN:ZDB-GENE-030616-617 | DANRE05980 | |
100528847 | ICTPU26668 | ||
113582079 | ELEEL29598 | ||
105010688 | ESOLU16365 |
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