3dl9: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_3dl9| PDB=3dl9 | SCENE= }} | {{STRUCTURE_3dl9| PDB=3dl9 | SCENE= }} | ||
===Crystal structure of CYP2R1 in complex with 1-alpha-hydroxy-vitamin D2=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CP2R1_HUMAN CP2R1_HUMAN]] Defects in CYP2R1 are the cause of rickets vitamin D-dependent type 1B (VDDR1B) [MIM:[http://omim.org/entry/600081 600081]]; also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activityand low levels of 25-hydroxyvitamin D.<ref>PMID:15128933</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CP2R1_HUMAN CP2R1_HUMAN]] Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).<ref>PMID:12867411</ref><ref>PMID:15465040</ref><ref>PMID:18511070</ref> | |||
==About this Structure== | ==About this Structure== | ||
| Line 11: | Line 13: | ||
==See Also== | ==See Also== | ||
*[[Cytochrome P450|Cytochrome P450]] | *[[Cytochrome P450|Cytochrome P450]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arrowsmith, C H.]] | [[Category: Arrowsmith, C H.]] | ||
