UniProt | Protein Name |
---|---|
Q9H8P0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dolichyl diphosphate 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:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001272 | Cerebellar atrophy |
HP:0001317 | Abnormal cerebellum morphology |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001508 | Failure to thrive |
HP:0001595 | Abnormal hair morphology |
HP:0001928 | Abnormality of coagulation |
HP:0001935 | Microcytic anemia |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179438 | WB:WBGene00007102 | ||
34136 | FB:FBgn0032014 | ||
100181505 | CIOIN05096 | ||
102363132 | LATCH09739 | ||
560717 | ZFIN:ZDB-GENE-030131-7915 | DANRE19475 | |
103045498 | ASTMX11111 | ||
108258126 | ICTPU20131 | ||
113586386 | ELEEL36915 | ||
106584121 | SALSA84800 | ||
115192382 | SALTR28684 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024