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:0000007 | Autosomal recessive inheritance |
HP:0000248 | Brachycephaly |
HP:0000316 | Hypertelorism |
HP:0000329 | Facial hemangioma |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
HP:0000414 | Bulbous nose |
HP:0000431 | Wide nasal bridge |
HP:0000510 | Rod-cone dystrophy |
HP:0000518 | Cataract |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100604898 | NOMLE37367 | ||
114603835 | PODMU29949 | ||
107573990 | SINGR100821 | ||
106836922 | EQUAS24658 | ||
116826032 | CHEAB26974 | ||
115042353 | ECHNA35844 | ||
115381608 | SALFA43632 | ||
854762 | SGD:S000001311 | ||
103734389 | NANGA00864 | ||
116444571 | CORMO22058 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024