CYP27B1 - 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial - human protein (Medical)
 
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CYP27B1 »  25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial   [ EC 1.14.13.13 ]
 
Protein also known as:  Cytochrome P450 subfamily XXVIIB polypeptide 1.
Gene name:  CYP27B1
Family name: Cytochrome P450
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 103 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]: 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 disease is caused by mutations affecting the gene represented in this entry.  
5
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Hypocalcemic vitamin D-dependent rickets  289157  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
Calcidiol  DB00146  
Calcitriol  DB00136  
Ergocalciferol  DB00153  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 1594
MIM: 264700
PharmGKB: PA27099
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.