UniProt | Protein Name |
---|---|
P51857 |
|
GO Term | Evidence Code | PMID |
---|---|---|
C21-steroid hormone metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
delta4-3-oxosteroid 5beta-reductase activity | ||
alditol:NADP+ 1-oxidoreductase activity | ||
steroid binding |
|
|
aldo-keto reductase (NADP) activity |
|
|
ketosteroid monooxygenase activity |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000107 | Renal cyst |
HP:0000952 | Jaundice |
HP:0001396 | Cholestasis |
HP:0001397 | Hepatic steatosis |
HP:0001399 | Hepatic failure |
HP:0001406 | Intrahepatic cholestasis |
HP:0001508 | Failure to thrive |
HP:0001744 | Splenomegaly |
HP:0001978 | Extramedullary hematopoiesis |
Disease ID | Disease Name |
---|---|
ORPHA:79303 |
|
OMIM:235555 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115196975 | SALTR11623 | ||
115550949 | GADMO61517 | ||
103465917 | POERE28289 | ||
101170970 | ORYLA10928 | ||
100710661 | ORENI69919 | ||
109194203 | ORENI26245 | ||
102293767 | HAPBU12948 | ||
113026470 | ASTCA37845 | ||
399023 | Xenbase:XB-GENE-17341435 | ||
734699 | Xenbase:XB-GENE-947172 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024