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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CYP7
gptkb:CYPVII
gptkb:cholesterol_7-alpha-monooxygenase
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
gptkb:cerebrotendinous_xanthomatosis
bile acid synthesis defect
|
|
gptkbp:encodes
|
gptkb:cholesterol_7_alpha-hydroxylase
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000167910
1581
|
|
gptkbp:enzymeCommissionNumber
|
gptkb:EC_1.14.14.23
|
|
gptkbp:expressedIn
|
liver
|
|
gptkbp:fullName
|
gptkb:cytochrome_P450_family_7_subfamily_A_member_1
|
|
gptkbp:function
|
catalyzes the rate-limiting step in bile acid biosynthesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
2593
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CYP7A1
|
|
gptkbp:locatedOnChromosome
|
8q12.1
|
|
gptkbp:mutationAssociatedWith
|
can cause bile acid deficiency
can cause hypercholesterolemia
|
|
gptkbp:OMIM
|
118455
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Cyp7a1
|
|
gptkbp:pathway
|
cholesterol metabolism
bile acid biosynthesis
|
|
gptkbp:product
|
gptkb:P450_7A1
|
|
gptkbp:RefSeq
|
gptkb:NM_000780
|
|
gptkbp:regulates
|
regulated by cholesterol levels
regulated by nuclear receptors (LXR, FXR, SHP)
|
|
gptkbp:UniProtID
|
gptkb:P22680
|
|
gptkbp:bfsParent
|
gptkb:CYP7_family
gptkb:CYP_family
|
|
gptkbp:bfsLayer
|
5
|