GeneID: 363
Names
Common Name: | HLA-A | Type: | Gene |
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Chromosome: | 6 (NC_000006.12) | Locus: | NG_029217.2 (HLA-A) |
HUGO Symbol: | HLA-A | Full Name: | major histocompatibility complex, class I, A |
Exons: | 8 | Introns: | 7 |
Description:
HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. Several HLA-A alleles have been described of which HLA-A*0102 and HLA-A*2612 have been shown to influence risk for stroke in patients with sickle cell disease. HLA-A*23 associated with red blood cell alloimmunisation in polytransfused patients with sickle cell anaemia.
Synonyms: HLAA
Comments:
N/A
Number of entries/variants: 0
Sequence Viewer
Publications / Origin
- Hoppe C, Klitz W, Noble J, Vigil L, Vichinsky E, Styles L, Distinct HLA associations by stroke subtype in children with sickle cell anemia., Blood, 101(7), 2865-9, 2003 PubMed
- Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L, , Gene interactions and stroke risk in children with sickle cell anemia., Blood , 103(6), 2391-6, 2004 PubMed
- Rodrigues C, Sell AM, Guelsin GAS, Higa TT, Pagliarini E Silva S, Macedo LC, Sippert EÂ, de Alencar JB, Zanette Â, Acorsi CRL, Castilho L, Visentainer JEL, HLA polymorphisms and risk of red blood cell alloimmunisation in polytransfused patients with sickle cell anaemia., Transfus Med, 27(6), 437-443, 2017 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2020-03-26 11:43:25 | The IthaGenes Curation Team | Created |
2 | 2020-08-05 14:28:16 | The IthaGenes Curation Team | Reviewed. Referennce added, Comment edited. |