UniProt | Protein Name |
---|---|
Q15392 |
|
GO Term | Evidence Code | PMID |
---|---|---|
male genitalia development | ||
cholesterol biosynthetic process via desmosterol | ||
response to hormone | ||
steroid metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi membrane |
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:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000256 | Macrocephaly |
HP:0000278 | Retrognathia |
HP:0000286 | Epicanthus |
HP:0000347 | Micrognathia |
HP:0000358 | Posteriorly rotated ears |
HP:0000363 | Abnormal earlobe morphology |
HP:0000366 | Abnormality of the nose |
HP:0000368 | Low-set, posteriorly rotated ears |
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 | ||
106584213 | SALSA85431 | ||
115192413 | SALTR29656 | ||
115555023 | GADMO06659 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024