1.14.14.29: 25/26-hydroxycholesterol 7alpha-hydroxylase

This is an abbreviated version!
For detailed information about 25/26-hydroxycholesterol 7alpha-hydroxylase, go to the full flat file.

Word Map on EC 1.14.14.29

Reaction

(25R)-cholest-5-ene-3beta,26-diol
+
[reduced NADPH-hemoprotein reductase]
+
O2
=
(25R)-cholest-5-ene-3beta,7alpha,26-triol
+
[oxidized NADPH-hemoprotein reductase]
+
H2O

Synonyms

25-hydroxycholesterol 7alpha-hydroxylase, 25-hydroxycholesterol 7alpha-monooxygenase, 25-hydroxycholesterol-7alpha-hydroxylase, cholesterol 25-hydroxylase, Cyp39a1, CYP7B, CYP7B1, CYP7B1 oxysterol 7alpha-hydroxylase, CYPB1, cytochome P450 7B1, cytochrome P-450 oxysterol 7-alpha-hydroxylase, oxysterol 7 alpha-hydroxylase, oxysterol 7alpha-hydroxylase, oxysterol-7alpha-hydroxylase, Steroid hydroxylase

ECTree

     1 Oxidoreductases
         1.14 Acting on paired donors, with incorporation or reduction of molecular oxygen
             1.14.14 With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen into the other donor
                1.14.14.29 25/26-hydroxycholesterol 7alpha-hydroxylase

Engineering

Engineering on EC 1.14.14.29 - 25/26-hydroxycholesterol 7alpha-hydroxylase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
A316AA
-
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia
G147D
-
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia
G443A
c.1328G-C, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
G87V
c.260G-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
H285L
c.854A-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
R112X
-
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia
R324H
c.971G-A, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5
R486C
-
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia