APRT - Adenine phosphoribosyltransferase - human protein (Medical)
 
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Protein
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APRT »  Adenine phosphoribosyltransferase   [ EC 2.4.2.7 ]  (APRT)
 
Gene name:  APRT
Entry whose protein(s) existence is based on evidence at protein level
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1 41 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. The disease is caused by mutations affecting the gene represented in this entry.  
8
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Adenine phosphoribosyltransferase deficiency  976  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
Adenine  DB00173  
Adenosine monophosphate  DB00131  
 

Keywords

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

Further external links

Organism-specific databases
CTD: 353
GeneReviews: APRT
MIM: 614723
PharmGKB: PA24914
Polymorphism databases
DMDM: 114074
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.