(Q50289160)

English

Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

An instance of the biological reaction in Homo sapiens with Reactome ID (R-HSA-5602885)

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8 July 2022

Defective CYP7B1 causes SPG5A and CBAS3

1 reference

13 July 2022

1 reference

8 July 2022

https://identifiers.org/reactome:R-HSA-5602885

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8 July 2022

25-hydroxycholesterol

1

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8 July 2022

1

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8 July 2022

1

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8 July 2022

CYP7B1 mutants [endoplasmic reticulum membrane]

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1 reference

8 July 2022

1

1 reference

8 July 2022

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

1 reference

8 July 2022

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

1 reference

8 July 2022

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

1 reference

8 July 2022

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

1 reference

8 July 2022

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

1 reference

8 July 2022

Identifiers

1 reference

8 July 2022

(Q50289160)

Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

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