HLA-DQA1 - HLA class II histocompatibility antigen, DQ alpha 1 chain - human protein (Medical)
 
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HLA-DQA1 »  HLA class II histocompatibility antigen, DQ alpha 1 chain
 
Protein also known as:  MHC class II DQA1.
Gene name:  HLA-DQA1
Family name: MHC class II
Entry whose protein(s) existence is based on evidence at protein level
extend overview
2 205 1
GENE REF ISO

Medical

 show evidences
Disease 
According to Orphanet, this protein is involved in the following diseases:
Celiac disease  555  
Diabetes mellitus type 1  243377  
Polymorphism 
The following alleles of DQA1 are known: DQA1*01:01, DQA1*01:02, DQA1*01:03, DQA1*01:04, DQA1*01:05, DQA1*01:06, DQA1*01:07, DQA1*02:01, DQA1*03:01, DQA1*03:02, DQA1*03:03, DQA1*04:01, DQA1*04:02, DQA1*04:03, DQA1*04:04, DQA1*05:01, DQA1*05:02, DQA1*05:03, DQA1*05:04, DQA1*05:05, DQA1*05:06, DQA1*05:07, DQA1*05:08, DQA1*05:09, DQA1*06:01, DQA1*06:02. The sequence shown is that of DQA1*05:01.  
  • CuratedUniProtKB
DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02). DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy.  
  • CuratedUniProtKB
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 3117
GeneReviews: HLA-DQA1
PharmGKB: PA35066
Polymorphism databases
DMDM: 122188
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.