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, 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 ...
s
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,
*
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
Further reading
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External links
Molecular Anthropology Yahoo GroupHLA Allele and Haplotype Frequency Database
{{Surface antigens
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