GO Term | Evidence Code | PMID |
---|---|---|
glucose metabolic process | ||
acetyl-CoA biosynthetic process from pyruvate | ||
tricarboxylic acid cycle |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
mitochondrial pyruvate dehydrogenase complex |
|
|
pyruvate dehydrogenase complex | ||
mitochondrial matrix | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
dihydrolipoyllysine-residue acetyltransferase activity | ||
pyruvate dehydrogenase (NAD+) activity | ||
protein 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:0050167 | autoimmune polyendocrine syndrome type 1 | |
DOID:0050841 | focal hand dystonia | |
DOID:0060216 | Cogan syndrome | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis | |
DOID:0060262 | gallbladder disease | |
DOID:0060643 | primary sclerosing cholangitis | |
DOID:0110741 | type 1 diabetes mellitus 2 | |
DOID:0110742 | type 1 diabetes mellitus 3 | |
DOID:0110743 | type 1 diabetes mellitus 4 |
HPO ID | HPO Term |
---|---|
HP:0002355 | Difficulty walking |
HP:0002395 | Lower limb hyperreflexia |
HP:0002454 | Eye of the tiger anomaly of globus pallidus |
HP:0002465 | Poor speech |
HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex |
HP:0003128 | Lactic acidosis |
HP:0003487 | Babinski sign |
HP:0003593 | Infantile onset |
HP:0004302 | Functional motor deficit |
HP:0005656 | Positional foot deformity |
Disease ID | Disease Name |
---|---|
ORPHA:79244 |
|
OMIM:245348 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
549074 | Xenbase:XB-GENE-982534 | ||
101941556 | CHRPI18059 | ||
109318080 | CROPO23367 | ||
100549645 | MELGA08147 | ||
100078104 | ORNAN03269 | ||
100412039 | CALJA04831 | ||
102131289 | MACFA10342 | ||
710930 | MACMU10947 | ||
101010313 | PAPAN07312 | ||
101137170 | GORGO02579 |
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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