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cytochrome P450, family 27, subfamily a, polypeptide 1
Phenotype annotations related to homeostasis/metabolism
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Abnormal circulating cholesterol concentration
Disease(s) Associated with CYP27A1
cerebrotendinous xanthomatosis

Mouse Phenotypes
homeostasis/metabolism phenotype
decreased intestinal cholesterol absorption
abnormal circulating cholesterol level
decreased circulating HDL cholesterol level
increased circulating VLDL cholesterol level
decreased circulating cholesterol level
increased circulating cholesterol level
decreased circulating triglyceride level
increased circulating triglyceride level
increased circulating VLDL triglyceride level
decreased circulating phosphate level
increased circulating alkaline phosphatase level
improved glucose tolerance
abnormal bile salt homeostasis
decreased bile salt level
decreased cholesterol level
increased cholesterol level
increased fatty acids level
abnormal vitamin D level
increased sterol level
increased liver triglyceride level
Availability Mouse Genotype
Cyp27a1tm1Elt/Cyp27a1tm1Elt *

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory