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MGP003893

UniProt Annotations

Entry Information

Gene Name	cytochrome P450, family 7, subfamily B, polypeptide 1
Protein Entry	CP7B1_HUMAN
UniProt ID	O75881
Species	Human

Comments

Comment type	Description
Catalytic Activity	(25R)-cholest-5-ene-3-beta,26-diol + NADPH + O(2) = (25R)-cholest-5-ene-3-beta,7-alpha,26-triol + NADP(+) + H(2)O.
Catalytic Activity	Cholest-5-ene-3-beta,25-diol + NADPH + O(2) = cholest-5-ene-3-beta,7-alpha,25-triol + NADP(+) + H(2)O.
Cofactor	Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
Disease	Congenital bile acid synthesis defect 3 (CBAS3) [MIM:613812]: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. {ECO:0000269\|PubMed:9802883}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]: A form of spastic paraplegia, 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. {ECO:0000269\|PubMed:18252231}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Pathway	Lipid metabolism; bile acid biosynthesis.
Similarity	Belongs to the cytochrome P450 family. {ECO:0000305}.
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.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CYP7B1ID40255ch8q21.html";