UniProt | Protein Name |
---|---|
Q00796 |
|
GO Term | Evidence Code | PMID |
---|---|---|
L-xylitol catabolic process | ||
sorbitol catabolic process | ||
glucose metabolic process | ||
L-xylitol metabolic process | ||
flagellated sperm motility |
GO Term | Evidence Code | PMID |
---|---|---|
motile cilium | ||
cytosol | ||
mitochondrial membrane | ||
extracellular space | ||
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
D-xylulose reductase activity | ||
ribitol 2-dehydrogenase activity | ||
L-iditol 2-dehydrogenase activity | ||
identical 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:0050535 | exudative vitreoretinopathy | |
DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | |
DOID:0050700 | cardiomyopathy | |
DOID:0050771 | pheochromocytoma | |
DOID:0050773 | paraganglioma | |
DOID:0060537 | mitochondrial complex II deficiency | |
DOID:0070042 | Coffin-Siris syndrome 1 | |
DOID:0080092 | myofibrillar myopathy 1 |
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 |
---|---|---|---|
105491132 | MACNE04037 | ||
101000624 | PAPAN37464 | ||
105548188 | MANLE31528 | ||
453394 | PANTR10211 | ||
107968609 | PANTR10211 | ||
100173784 | PONAB08901 | ||
487535 | CANLF12475 | ||
100469986 | AILME18804 | ||
101675591 | MUSPF14177 | ||
101088085 | FELCA13201 |
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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