IRAK4 - Interleukin-1 receptor-associated kinase 4 - human protein (Medical)
 
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IRAK4 »  Interleukin-1 receptor-associated kinase 4   [ EC 2.7.11.1 ]  (IRAK-4)
 
Protein also known as:  Renal carcinoma antigen NY-REN-64.
Gene name:  IRAK4
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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Disease 
Recurrent isolated invasive pneumococcal disease 1 (IPD1) [MIM:610799]: Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
IRAK4 deficiency (IRAK4D) [MIM:607676]: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children. The disease is caused by mutations affecting the gene represented in this entry.  
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  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency  70592  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 51135
MIM: 607676
MIM: 610799
PharmGKB: PA134914577
Polymorphism databases
DMDM: 50401181
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.