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:0050328 | congenital hypothyroidism | |
DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
DOID:0050429 | Hailey-Hailey disease | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0050753 | cerebellar ataxia | |
DOID:0050807 | Kahrizi syndrome | |
DOID:0060320 | inguinal hernia | |
DOID:0060762 | restrictive dermopathy | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0060862 | mal de Meleda |
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 |
---|---|---|---|
179438 | WB:WBGene00007102 | ||
34136 | FB:FBgn0032014 | ||
100181505 | CIOIN05096 | ||
102363132 | LATCH09739 | ||
560717 | ZFIN:ZDB-GENE-030131-7915 | DANRE19475 | |
103045498 | ASTMX11111 | ||
108258126 | ICTPU20131 | ||
113586386 | ELEEL36915 | ||
106584121 | SALSA105821 | ||
115192382 | SALTR28684 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024