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:0110769 | hereditary spastic paraplegia 16 | |
DOID:0110770 | hereditary spastic paraplegia 17 | |
DOID:0110771 | hereditary spastic paraplegia 18 | |
DOID:0110772 | hereditary spastic paraplegia 19 | |
DOID:0110773 | hereditary spastic paraplegia 2 | |
DOID:0110774 | hereditary spastic paraplegia 23 | |
DOID:0110775 | hereditary spastic paraplegia 24 | |
DOID:0110776 | hereditary spastic paraplegia 25 | |
DOID:0110777 | hereditary spastic paraplegia 26 | |
DOID:0110778 | hereditary spastic paraplegia 27 |
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 |
---|---|---|---|
173305 | WB:WBGene00013670 | ||
187703 | WB:WBGene00019965 | ||
34835 | FB:FBgn0028916 | ||
103181004 | CALMI21687 | ||
559240 | ZFIN:ZDB-GENE-070522-3 | ||
103034502 | ASTMX16955 | ||
108267970 | ICTPU33049 | ||
113578308 | ELEEL21460 | ||
106577841 | SALSA90221 | ||
115194427 | SALTR90074 |
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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