UniProt | Protein Name |
---|---|
Q86SQ9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
polyprenol biosynthetic process | ||
dolichyl diphosphate biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
dehydrodolichyl diphosphate synthase complex |
GO Term | Evidence Code | PMID |
---|---|---|
dehydrodolichyl diphosphate synthase activity | ||
metal ion binding | ||
protein binding | ||
polyprenyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060585 | Noonan syndrome 7 | |
DOID:0060586 | Noonan syndrome 8 | |
DOID:0060587 | Noonan syndrome 9 | |
DOID:0060588 | Noonan syndrome 10 | |
DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
DOID:0060764 | autosomal recessive Robinow syndrome | |
DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
DOID:0060767 | autosomal dominant Robinow syndrome 3 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000035 | Abnormal testis morphology |
HP:0000054 | Micropenis |
HP:0000083 | Renal insufficiency |
HP:0000135 | Hypogonadism |
HP:0000252 | Microcephaly |
HP:0000348 | High forehead |
HP:0000405 | Conductive hearing impairment |
Disease ID | Disease Name |
---|---|
OMIM:617836 |
|
ORPHA:442835 |
|
ORPHA:791 |
|
OMIM:613861 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101584612 | OCTDE21397 | ||
101711794 | HETGA09680 | ||
100012356 | MONDO22659 | ||
102444519 | PELSI05384 | ||
100552810 | ANOCA13621 | ||
103666770 | URSMA05960 | ||
114045098 | VOMUR28083 | ||
113878495 | BOBOX38513 | ||
105863487 | MICMU03783 | ||
101067613 | TAKRU46769 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024