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:0090132 | complex cortical dysplasia with other brain malformations 7 | |
DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 | |
DOID:0110039 | Alzheimer's disease 7 | |
DOID:0110041 | Alzheimer's disease 8 | |
DOID:0110043 | Alzheimer's disease 10 | |
DOID:0110044 | Alzheimer's disease 11 | |
DOID:0110045 | Alzheimer's disease 12 |
HPO ID | HPO Term |
---|---|
HP:0005160 | Total anomalous pulmonary venous return |
HP:0005280 | Depressed nasal bridge |
HP:0005281 | Hypoplastic nasal bridge |
HP:0005789 | Generalized osteosclerosis |
HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
HP:0008065 | Aplasia/Hypoplasia of the skin |
HP:0008678 | Renal hypoplasia/aplasia |
HP:0008905 | Rhizomelia |
HP:0009085 | Alveolar ridge overgrowth |
HP:0009473 | Joint contracture of the hand |
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