HLA-C

From Wikipedia, the free encyclopedia

major histocompatibility complex, class I, C
Identifiers
Symbol	HLA-C
HUGO	4933
Entrez	3107
OMIM	142840
RefSeq	NM_002117
UniProt	P30499
Other data
Locus	Chr. 6 p21.31

HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides.

HLA-C is a locus on chromosome 6 that encodes for a large number of HLA-C alleles that are Class-I MHC receptors. HLA-C is localized proximal to the HLA-B locus is located on the distal end of the HLA region. Most HLA Cw:B haplotypes are in strong linkage disequilibrium and many are as ancient as the human species itself.

1 Disease Associations
- 1.1 By Serotype
- 1.2 By Allele
2 Nomenclature
3 Common Haplotype
4 References
5 External links

[edit] Disease Associations

[edit] By Serotype

Cw1: Multinodular goiters^[1]

[edit] By Allele

Cw*16: B chronic lymphocytic leukaemia^[2]

[edit] Nomenclature

Cw*01

Cw1 Serotype: Cw*0102 and Cw*0109
Cw11 ?
Cw*0104 to *0108

Cw*02

Cw2 Serotype: Cw*0202 and *0208
Cw*0203 to *0207, and 0209

Cw*03

Cw9 Serotype: Cw*0303
Cw10 Serotype: Cw*0302, *0304, and *0306
Cw3 Serotype: Cw*0307
Cw*0305 and 0308

Cw*04

Cw4 Serotype: Cw*0401, *0407, and *0410

Cw*05

Cw5 Sertoype: Cw*0501 and *0502
Cw*0503 to *506 and *0508 to *0510

Cw*06

Cw6 Serotype: Cw*0602 and *0605
Cw6*0603, *0604 and *0606 to *0611

Cw7 Serotype: Cw*0701 to *0706, *0712, *0714, *0716
Cw*0707 to *0711, *0713, *0715, and *0717 to *0729

Cw*08

Cw8 Serotype: Cw*0801, *0802 and *0803
Cw*805 to *0812

Cw*1202 to *1215

Cw*1402 to *1405

Cw*1501 to *1511

Cw*1601 to *1606

Cw*1701 to *1703

Cw*1801 and *1802

[edit] Common Haplotype

Cw4-B35 (Western Africa to Native Americans) Cw7-B7 (Western Eurasia, South Africa) Cw7-B8 (Western Eurasia) Cw1-B46 (China, Indochina) Cw5-B44 (Western Eurasia)

[edit] References

^ Ríos A, Rodríguez J, Moya M, Galindo P, Canteras M, Alvarez M, Parrilla P (2006). "Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain.". Arch Surg 141 (2): 123-8. PMID 16490887.
^ Montes-Ares O, Moya-Quiles M, Montes-Casado M, Guerra-Pérez N, Campillo J, González C, López-Bermejo A, Tamayo M, Majado M, Parrado A, Muro M, Marín L, Alvarez-López M (2006). "Human leucocyte antigen-C in B chronic lymphocytic leukaemia.". Br J Haematol 135 (4): 517-9. PMID 17054674.