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:0003593 | Infantile onset |
HP:0003642 | Type I transferrin isoform profile |
HP:0004322 | Short stature |
HP:0005107 | Abnormal sacrum morphology |
HP:0005280 | Depressed nasal bridge |
HP:0005585 | Spotty hyperpigmentation |
HP:0006380 | Knee flexion contracture |
HP:0007766 | Optic disc hypoplasia |
HP:0008064 | Ichthyosis |
HP:0008947 | Infantile muscular hypotonia |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
110200149 | PHACI03073 | ||
101035698 | SAIBB22449 | ||
101958155 | ICTTR02164 | ||
118318277 | SCOMX04547 | ||
102442157 | MYOLU08363 | ||
117022239 | RHIFE18822 | ||
100224163 | TAEGU23558 | ||
103235668 | CHLSB16369 | ||
108531594 | RHIBE04210 | ||
104662017 | RHIRO35627 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024