UniProt | Protein Name |
---|---|
P51857 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cholesterol catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
alditol:NADP+ 1-oxidoreductase activity | ||
delta4-3-oxosteroid 5beta-reductase activity | ||
ketosteroid monooxygenase activity | ||
protein binding | ||
aldo-keto reductase (NADP) activity |
|
HPO ID | HPO Term |
---|---|
HP:0003623 | Neonatal onset |
HP:0003645 | Prolonged partial thromboplastin time |
HP:0006579 | Prolonged neonatal jaundice |
HP:0008151 | Prolonged prothrombin time |
HP:0008897 | Postnatal growth retardation |
HP:0011040 | Abnormal intrahepatic bile duct morphology |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0100513 | Decreased circulating vitamin E concentration |
HP:0200084 | Giant cell hepatitis |
Disease ID | Disease Name |
---|---|
OMIM:235555 |
|
ORPHA:79303 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: February 17, 2025