GeneID: 382
Names
Common Name: | HLA-C | Type: | Gene |
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Chromosome: | 6 (NC_000006.12) | Locus: | NG_029422.2 (HLA-C) |
HUGO Symbol: | HLA-C | Full Name: | major histocompatibility complex, class I, C |
Exons: | 8 | Introns: | 7 |
Description:
HLA-C 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 endoplasmic reticulum lumen. They are expressed in nearly all cells. Several HLA-C alleles have been described of which HLA-C*06 associated with alloimmunisation in polytransfused patients with sickle cell anaemia.
Synonyms: MHC , HLAC , HLC-C , D6S204 , PSORS1 , HLA-JY3
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- 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
A/A | Date | Curator(s) | Comments |
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1 | 2020-08-05 14:24:16 | The IthaGenes Curation Team | Created |