25-Hydroxyvitamin D 1-alpha-hydroxylase
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value).
| calcidiol 1-monooxygenase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC no. | 1.14.15.18 | ||||||||
| CAS no. | 9081-36-1 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
| |||||||||
25-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as calcidiol 1-monooxygenase[citation needed] or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.[1][2][3]
VD 1A hydroxylase is located in the proximal tubule of the kidney and a variety of other tissues, including skin (keratinocytes), immune cells,[4] and bone (osteoblasts).[5]
Reactions
[edit | edit source]The enzyme catalyzes the hydroxylation of calcifediol to calcitriol (the bioactive form of Vitamin D):[6]
- calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 ⇌ calcitriol + 2 oxidized adrenodoxin + H2O
The enzyme is also able to oxidize ercalcidiol (25-OH D2) to ercalcitriol, secalciferol to calcitetrol, and 25-hydroxy-24-oxocalciol to (1S)-1,25-dihydroxy-24-oxocalciol.[7]
Clinical significance
[edit | edit source]Loss-of-function mutations in CYP27B1 cause Vitamin D-dependent rickets, type IA.[8]
Interactive pathway map
[edit | edit source]Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
- ^ The interactive pathway map can be edited at WikiPathways: Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
References
[edit | edit source]- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Online Mendelian Inheritance in Man (OMIM): VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A - 264700
Further reading
[edit | edit source]- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
External links
[edit | edit source]- 25-Hydroxyvitamin+D3+1-alpha-Hydroxylase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CYP27B1 genome location and CYP27B1 gene details page in the UCSC Genome Browser.
- Human VDR genome location and VDR gene details page in the UCSC Genome Browser.
Lua error in mw.title.lua at line 392: bad argument #2 to 'title.new' (unrecognized namespace name 'Portal').