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:0110046 | Alzheimer's disease 13 | |
DOID:0110047 | Alzheimer's disease 14 | |
DOID:0110048 | Alzheimer's disease 15 | |
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110213 | isolated cleft palate | |
DOID:0110851 | rhizomelic chondrodysplasia punctata type 1 | |
DOID:0110852 | rhizomelic chondrodysplasia punctata type 2 | |
DOID:0110853 | rhizomelic chondrodysplasia punctata type 3 | |
DOID:0110938 | autosomal dominant osteopetrosis 2 | |
DOID:0110946 | autosomal recessive osteopetrosis 7 |
HPO ID | HPO Term |
---|---|
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
HP:0001302 | Pachygyria |
HP:0001331 | Absent septum pellucidum |
HP:0001338 | Partial agenesis of the corpus callosum |
HP:0001339 | Lissencephaly |
HP:0001508 | Failure to thrive |
HP:0001510 | Growth delay |
HP:0001511 | Intrauterine growth retardation |
HP:0001643 | Patent ductus arteriosus |
Disease ID | Disease Name |
---|---|
OMIM:602398 |
|
ORPHA:35107 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100405876 | CALJA39513 | ||
105595994 | CERAT06777 | ||
717022 | MACMU21521 | ||
101000886 | PAPAN17973 | ||
101131027 | GORGO18325 | ||
456879 | PANTR21200 | ||
489573 | CANLF15672 | ||
112926100 | VULVU20282 | ||
123795391 | URSAM21718 | ||
100468564 | AILME16382 |
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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