UniProt | Protein Name |
---|---|
Q9H8P0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
androgen biosynthetic process |
|
|
dolichol metabolic process | ||
polyprenol catabolic process | ||
dolichol-linked oligosaccharide biosynthetic process | ||
dolichol biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
polyprenol reductase activity | ||
3-oxo-5-alpha-steroid 4-dehydrogenase activity | ||
3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) |
DO ID | Disease Name | Source |
---|---|---|
DOID:13174 | dissociated nystagmus | |
DOID:13515 | tuberous sclerosis | |
DOID:1432 | blindness | |
DOID:14323 | Marfan syndrome | |
DOID:1459 | hypothyroidism | |
DOID:1686 | glaucoma | |
DOID:1697 | ichthyosis | |
DOID:1826 | epilepsy | |
DOID:2340 | craniosynostosis | |
DOID:2451 | protein S deficiency |
HPO ID | HPO Term |
---|---|
HP:0010864 | Intellectual disability, severe |
HP:0012443 | Abnormal brain morphology |
HP:0012471 | Thick vermilion border |
HP:0030680 | Abnormal cardiovascular system morphology |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105591982 | CERAT35365 | ||
102135568 | MACFA34126 | ||
696381 | MACMU36210 | ||
105463533 | MACNE07392 | ||
101018670 | PAPAN26895 | ||
101127484 | GORGO30693 | ||
100987485 | PANPA30475 | ||
471241 | PANTR33958 | ||
100461714 | PONAB27944 | ||
123804043 | URSAM14626 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024