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 β2 microglobulin (B2M) is a component of MHC class I molecules. MHC class I molecules have α1, α2, and α3 proteins which are present on all nucleated cells (excluding red blood cells). In humans, the β2 microglobulin protein is encoded by t ...

. 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, which encodes for many HLA-C alleles that are Class-I MHC receptors. HLA-C, localized proximal to the HLA-B locus, is located on the distal end of the HLA region. Most HLA-C:B haplotypes are in strong

linkage disequilibrium In population genetics, linkage disequilibrium (LD) is the non-random association of alleles at different loci in a given population. Loci are said to be in linkage disequilibrium when the frequency of association of their different alleles is h ...

and many are as ancient as the human species itself.

Disease associations

By serotype

Cw1:

multinodular goiter A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland. A goitre can be associated with a thyroid that is not functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is ...

By
allele An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...

C*16:

B-cell chronic lymphocytic leukemia Chronic lymphocytic leukemia (CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). Early on, there are typically no symptoms. Later, non-painful lymph node swelling, feeling tired, fever, nigh ...

Nomenclature

C*01 *Cw1 serotype: C*01:02 and C*01:09 *Cw11 *C*01:04 to *01:08
C*02 *Cw2 serotype: C*02:02 and *02:08 *C*02:03 to *02:07, and 02:09
C*03 *Cw9 serotype: C*03:03 *Cw10 serotype: C*03:02, *03:04, and *03:06 *Cw3 serotype: C*03:07 *C*03:05 and 03:08
C*04 *Cw4 serotype: C*0401, *0407, and *0410
C*05 *Cw5 serotype: C*05:01 and *05:02 *C*05:03 to *05:06 and *05:08 to *05:10
C*06 *Cw6 serotype: C*06:02 and *06:05 *C*06:03, *06:04 and *06:06 to *06:11
C*07 *Cw7 serotype: C*07:01 to *07:06, *07:12, *07:14, *07:16 *C*07:07 to *07:11, *07:13, *07:15, and *07:17 to *07:29
C*08 *Cw8 serotype: C*08:01, *08:02 and *08:03 *C*08:05 to *08:12
Others * C*12:02 to *12:15 * C*14:02 to *14:05 * C*15:01 to *15:11 * C*16:01 to *16:06 * C*17:01 to *17:03 * C*18:01 and *18:02

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)

Interactions

HLA-C has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...

with: *

KIR2DL1 Killer cell immunoglobulin-like receptor 2DL1 is a protein that in humans is encoded by the ''KIR2DL1'' gene. Function Killer-cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subs ...

, *

Leukocyte immunoglobulin-like receptor The leukocyte immunoglobulin-like receptors (LILR) are a family of receptors possessing extracellular immunoglobulin domains. They are also known as CD85, ILTs and LIR, and can exert immunomodulatory effects on a wide range of immune cells.Damia ...

family: ** particularly the activating receptor LILRA1 ** LILRA3

References

External links

Molecular Anthropology Yahoo Group

HLA Allele and Haplotype Frequency Database
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