Entity Details
Primary name |
AKR1D1 |
Entity type |
gene |
Source |
Source Link |
Details
PrimaryID | 6718 |
RefseqGene | NG_023342 |
Symbol | AKR1D1 |
Name | aldo-keto reductase family 1 member D1 |
Chromosome | 7 |
Location | 7q33 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 1999-11-15 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
235555 | OMIM | Congenital bile acid synthesis defect 2 (CBAS2) | A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
8 interactions