background:
The CYP7B1 protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme is likely to play a minor role in total bile acid synthesis, and may also be involved in the development of neurosteroid metabolism, atherosclerosis and sex hormone synthesis, and is a member of the cytochrome P450 superfamily of enzymes.
Subcellular Location:
Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
Tissue Specificity:
Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine.
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.
Similarity:
Belongs to the cytochrome P450 family.
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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