IL12B - Interleukin-12 subunit beta - human protein (Medical)
 
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Protein
Gene
References

 
IL12B »  Interleukin-12 subunit beta  (IL-12B)
 
Protein also known as:  Cytotoxic lymphocyte maturation factor 40 kDa subunit (CLMF p40).
Gene name:  IL12B
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 
Psoriasis 11 (PSORS11) [MIM:612599]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
1
  • UniProtKB
Immunodeficiency 29 (IMD29) [MIM:614890]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis. The disease is caused by mutations affecting the gene represented in this entry.  
3
  • UniProtKB
According to Orphanet, this protein is involved in the following diseases:
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency  319558  
Takayasu arteritis  3287  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 3593
MIM: 612599
MIM: 614890
PharmGKB: PA29785
Polymorphism and mutation databases
BioMuta: IL12B
DMDM: 266320
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.