UniProt | Protein Name |
---|---|
O95278 |
|
GO Term | Evidence Code | PMID |
---|---|---|
carbohydrate phosphorylation |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatase activity |
|
|
glycogen (starch) synthase activity |
|
|
starch binding |
|
|
protein serine/threonine phosphatase activity |
|
|
protein homodimerization activity |
|
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000572 | Visual loss |
HP:0000709 | Psychosis |
HP:0000712 | Emotional lability |
HP:0000716 | Depression |
HP:0000726 | Dementia |
HP:0000992 | Cutaneous photosensitivity |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001257 | Spasticity |
Disease ID | Disease Name |
---|---|
ORPHA:501 |
|
OMIM:254780 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100409236 | CALJA31805 | ||
105588793 | CERAT02590 | ||
699361 | MACMU34093 | ||
105488972 | MACNE10403 | ||
101007529 | PAPAN34746 | ||
748434 | PANTR39244 | ||
100450107 | PONAB31718 | ||
112919497 | VULVU11734 | ||
123797413 | URSAM23179 | ||
101096812 | FELCA10734 |
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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