IL12B - Interleukin-12 subunit beta - human protein (Medical)
 
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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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1 227 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette- Guerin (BCG) vaccine and 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. The pathogenic mechanism underlying MSMD is the impairment of interferon- gamma mediated immunity, whose severity determines the clinical outcome. 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. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
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.  
2
  • CuratedUniProtKB
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: 209950
PharmGKB: PA29785
Polymorphism databases
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.