UDP-galactose-4-epimerase
| UniProt | Protein Name |
|---|---|
| Q14376 |
|
| A0A384NL38 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| galactose catabolic process | ||
| galactose catabolic process via UDP-galactose |
| GO Term | Evidence Code | PMID |
|---|---|---|
| UDP-N-acetylglucosamine 4-epimerase activity | ||
| UDP-glucose 4-epimerase activity | ||
| UDP-glucose 4-epimerase activity | ||
| identical protein binding | ||
| protein homodimerization activity |
| Gene Ontology |
|---|
| UDP-glucose 4-epimerase activity |
| galactose catabolic process via UDP-galactose |
| galactose metabolic process |
| isomerase activity |
| InterPro |
|---|
| NAD(P)-binding domain superfamily |
| UDP-glucose 4-epimerase |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111458 | galactose epimerase deficiency | |
| DOID:1588 | thrombocytopenia |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000750 | Delayed speech and language development |
| HP:0000952 | Jaundice |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001508 | Failure to thrive |
| HP:0001744 | Splenomegaly |
| Disease ID | Disease Name |
|---|---|
| OMIM:230350 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025