UniProt | Protein Name |
---|---|
Q9HCG7 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of actin filament polymerization | ||
glycosphingolipid catabolic process | ||
glycoside catabolic process | ||
carbohydrate metabolic process | ||
regulation of membrane lipid distribution |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
endoplasmic reticulum membrane | ||
smooth endoplasmic reticulum | ||
plasma membrane | ||
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
glucosylceramidase activity | ||
steryl-beta-glucosidase activity | ||
glucosyltransferase activity | ||
galactosylceramidase activity | ||
beta-glucosidase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050753 | cerebellar ataxia | |
DOID:0050886 | Troyer syndrome | |
DOID:0060245 | Mast syndrome | |
DOID:0060246 | MASA syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060491 | SPOAN syndrome | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000020 | Urinary incontinence |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000518 | Cataract |
HP:0000570 | Abnormal saccadic eye movements |
HP:0000639 | Nystagmus |
HP:0000726 | Dementia |
HP:0000789 | Infertility |
HP:0001249 | Intellectual disability |
Disease ID | Disease Name |
---|---|
ORPHA:352641 |
|
ORPHA:320391 |
|
OMIM:614409 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115529247 | GADMO20490 | ||
101175270 | ORYLA07508 | ||
100704528 | ORENI50321 | ||
115589295 | SPAAU06521 | ||
108705087 | Xenbase:XB-GENE-17333645 | ||
100145361 | Xenbase:XB-GENE-5799150 | ||
101937983 | CHRPI23565 | ||
100084636 | ORNAN19002 | ||
100916091 | SARHA18911 | ||
100404695 | CALJA19443 |
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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