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+) |
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 |
---|---|---|---|
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