Entry |
|
Name |
ACOX2 deficiency in bile acid biosynthesis
|
Definition |
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7 >> CYP8B1 >> AKR1D1 >> AKR1C4 >> CYP27A1 >> SLC27A5 >> AMACR >> ACOX2* |
Expanded |
C00187 -- (1581,9420,51302) >> 80270 >> 1582 >> 6718 >> 1109 >> 1593 >> 10998 >> 23600 >> 8309v1 |
Class |
|
Type |
Variant
|
Disease |
H00628 | Congenital bile acid synthesis defect |
|
Gene |
1581 | CYP7A1; cytochrome P450 family 7 subfamily A member 1 |
9420 | CYP7B1; cytochrome P450 family 7 subfamily B member 1 |
51302 | CYP39A1; cytochrome P450 family 39 subfamily A member 1 |
80270 | HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
1582 | CYP8B1; cytochrome P450 family 8 subfamily B member 1 |
6718 | AKR1D1; aldo-keto reductase family 1 member D1 |
1109 | AKR1C4; aldo-keto reductase family 1 member C4 |
1593 | CYP27A1; cytochrome P450 family 27 subfamily A member 1 |
10998 | SLC27A5; solute carrier family 27 member 5 |
23600 | AMACR; alpha-methylacyl-CoA racemase |
8309 | ACOX2; acyl-CoA oxidase 2 |
|
Variant |
8309v1 (ACOX2*) ACOX2 deficiency
|
Metabolite |
|
Reference |
|
Authors |
Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG |
Title |
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. |
Journal |
|
LinkDB |
|