UniProt | Protein Name |
---|---|
Q00796 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fructose biosynthetic process | ||
glucuronate catabolic process to xylulose 5-phosphate |
GO Term | Evidence Code | PMID |
---|---|---|
motile cilium | ||
cytosol | ||
mitochondrial membrane | ||
extracellular space | ||
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
D-sorbitol dehydrogenase (acceptor) activity | ||
zinc ion binding | ||
NAD binding | ||
carbohydrate binding | ||
(R,R)-butanediol dehydrogenase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0080324 | tuberous sclerosis 1 | |
DOID:0081376 | obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy | |
DOID:0081427 | autosomal recessive distal hereditary motor neuronopathy 8 | |
DOID:0110078 | Leber congenital amaurosis 1 | |
DOID:0110227 | cataract 32 multiple types | |
DOID:0110228 | cataract 8 multiple types | |
DOID:0110229 | cataract 6 multiple types | |
DOID:0110230 | cataract 34 multiple types | |
DOID:0110231 | cataract 1 multiple types | |
DOID:0110232 | cataract 29 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001761 | Pes cavus |
HP:0002355 | Difficulty walking |
HP:0002495 | Impaired vibratory sensation |
HP:0002650 | Scoliosis |
HP:0003431 | Decreased motor nerve conduction velocity |
HP:0007078 | Decreased amplitude of sensory action potentials |
HP:0007328 | Impaired pain sensation |
HP:0008959 | Distal upper limb muscle weakness |
HP:0008994 | Proximal muscle weakness in lower limbs |
Disease ID | Disease Name |
---|---|
OMIM:618912 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179404 | WB:WBGene00011004 | ||
179405 | WB:WBGene00011003 | ||
40836 | FB:FBgn0024289 | ||
41313 | FB:FBgn0022359 | ||
100177275 | CIOIN13158 | ||
100184593 | CIOIN04253 | ||
103188841 | CALMI04292 | ||
102345933 | LATCH13849 | ||
570613 | ZFIN:ZDB-GENE-040426-1231 | DANRE40437 | |
103041581 | ASTMX14704 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024