| Entry |
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| Name |
CYP27A1 deficiency in bile acid biosynthesis
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| Definition |
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7 >> CYP8B1 >> AKR1D1 >> AKR1C4 >> CYP27A1* |
|---|
| Expanded |
C00187 -- (1581,9420,51302) >> 80270 >> 1582 >> 6718 >> 1109 >> 1593v1 |
|---|
| Class |
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|---|
| Type |
Variant
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|---|
| Disease |
| H00151 | Cerebrotendinous xanthomatosis |
|
|---|
| 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 |
|
|---|
| Variant |
1593v1 (CYP27A1*) CYP27A1 deficiency
|
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| Metabolite |
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| Reference |
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| Authors |
Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM |
|---|
| Title |
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. |
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| Journal |
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| LinkDB |
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