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Alternative names
- 25 hydroxycholesterol 7 alpha hydroxylase
- 25-hydroxycholesterol 7-alpha-hydroxylase
- CP7B
- CP7B1_HUMAN
- Cyp7b1
- Cytochrome P450 7B1
- Cytochrome P450 family 7 subfamily B polypeptide 1
- Cytochrome P450 subfamily VIIB polypeptide 1
- Oxysterol 7-alpha-hydroxylase
- Oxysterol 7alpha hydroxylase
see all
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Tissue specificity
Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine.
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Pathway
Lipid metabolism; bile acid biosynthesis.
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Involvement in disease
Defects in CYP7B1 are the cause of spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Defects in CYP7B1 are the cause of congenital bile acid synthesis defect type 3 (CBAS3) [MIM:613812]. Clinical features include severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.
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Sequence similarities
Belongs to the cytochrome P450 family.
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Cellular localization
Endoplasmic reticulum membrane. Microsome membrane.
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Information by UniProt