Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL - Wikidata - awgldk - TriplyDB

Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

http://www.wikidata.org/entity/Q50289160

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Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)

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Q45316483-593F63A8-33BF-4DAC-A0AE-49BC597A8F78

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Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

http://www.wikidata.org/entity/Q50289160

description

An instance of the biological ...... late 25OH-CHOL in Homo sapiens

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biologisch proces

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name

Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

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type

label

Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

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prefLabel

Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

@en

P2860

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P31

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P527

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Q50289160-3A5F069A-52D4-4E87-A06D-4B1396C8394C

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

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

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

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

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

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reactome:R-HSA-5602885

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biological process

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Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)

P3937

R-HSA-5602885

http://www.w3.org/2001/XMLSchema#string

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25-hydroxycholesterol

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