NP_004811.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
58,256 Da
NCBI Official Full Name
25-hydroxycholesterol 7-alpha-hydroxylase
NCBI Official Synonym Full Names
cytochrome P450 family 7 subfamily B member 1
NCBI Protein Information
25-hydroxycholesterol 7-alpha-hydroxylase
UniProt Protein Name
25-hydroxycholesterol 7-alpha-hydroxylase
UniProt Synonym Protein Names
Cytochrome P450 7B1; Oxysterol 7-alpha-hydroxylase
UniProt Entry Name
CP7B1_HUMAN
NCBI Summary for CYP7B1
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
UniProt Comments for CYP7B1
CYP7B1: Defects in CYP7B1 are the cause of spastic paraplegia autosomal recessive type 5A (SPG5A). 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). Clinical features include severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. Belongs to the cytochrome P450 family.
Protein type: Endoplasmic reticulum; Lipid Metabolism - primary bile acid biosynthesis; EC 1.14.13.100; Oxidoreductase
Chromosomal Location of Human Ortholog: 8q21.3
Cellular Component: endoplasmic reticulum membrane
Molecular Function: 25-hydroxycholesterol 7alpha-hydroxylase activity; heme binding; iron ion binding; oxysterol 7-alpha-hydroxylase activity
Biological Process: bile acid biosynthetic process; cholesterol metabolic process; negative regulation of estrogen receptor signaling pathway; positive regulation of epithelial cell proliferation; sterol metabolic process
Disease: Bile Acid Synthesis Defect, Congenital, 3; Spastic Paraplegia 5a, Autosomal Recessive
Research Articles on CYP7B1
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Products associated with anti-CYP7B1 antibody
Pathways associated with anti-CYP7B1 antibody
Diseases associated with anti-CYP7B1 antibody
Organs/Tissues associated with anti-CYP7B1 antibody
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