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The official name of this gene is “major histocompatibility complex, class I, A.”
HLA-A is the gene's official symbol. The HLA-A gene is also known by other names, listed below.
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. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]
Involved in the presentation of foreign antigens to the immune system.
|||608579 (http://omim.org/entry/608579)||SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO, INCLUDED|
|142800 (http://omim.org/entry/142800)||MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A|
Cytogenetic Location: 6p21.3
Molecular Location on chromosome 6: base pairs 29,910,246 to 29,913,660
The HLA-A gene is located on the short (p) arm of chromosome 6 at position 21.3.
More precisely, the HLA-A gene is located from base pair 29,910,246 to base pair 29,913,660 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
antigens ; beta-2 microglobulin ; bone marrow ; class ; cutaneous ; domain ; endoplasmic reticulum ; exon ; expressed ; gene ; HLA ; immune system ; kidney ; molecule ; peptide ; specificity ; susceptibility ; transmembrane
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.