UniProt | Protein Name |
---|---|
Q15392 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cholesterol biosynthetic process | ||
membrane organization | ||
cholesterol biosynthetic process via lathosterol |
|
|
tissue development | ||
amyloid precursor protein catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
delta24(24-1) sterol reductase activity | ||
delta24-sterol reductase activity | ||
enzyme binding | ||
peptide antigen binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0040085 | bacterial sepsis | |
DOID:0050424 | familial adenomatous polyposis | |
DOID:0050453 | lissencephaly | |
DOID:0050777 | Joubert syndrome | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060270 | pontocerebellar hypoplasia type 2D | |
DOID:0060276 | pontocerebellar hypoplasia type 7 | |
DOID:0060277 | pontocerebellar hypoplasia type 8 | |
DOID:0060278 | pontocerebellar hypoplasia type 9 | |
DOID:0060292 | X-linked chondrodysplasia punctata 1 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000033 | Ambiguous genitalia, male |
HP:0000061 | Ambiguous genitalia, female |
HP:0000062 | Ambiguous genitalia |
HP:0000104 | Renal agenesis |
HP:0000160 | Narrow mouth |
HP:0000169 | Gingival fibromatosis |
HP:0000175 | Cleft palate |
HP:0000176 | Submucous cleft hard palate |
HP:0000193 | Bifid uvula |
Disease ID | Disease Name |
---|---|
OMIM:602398 |
|
ORPHA:35107 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
186134 | WB:WBGene00018718 | ||
100181233 | CIOIN09742 | ||
103182734 | CALMI25619 | ||
102351351 | LATCH06842 | ||
494102 | ZFIN:ZDB-GENE-041212-73 | DANRE18898 | |
103030946 | ASTMX12786 | ||
113588646 | ELEEL41409 | ||
115192413 | SALTR29656 | ||
115555023 | GADMO06659 | ||
101172722 | ORYLA12854 |
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