LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Bulgarian
Study Design
14 alleles were examined in 17 unrelated elderly (age 65-90 years; 6 males and 11 females), 23 family members (age 18-57 years; 9 males and 14 females), and a control group with 105 randomly selected, matched for geographical distribution healthy controls aged 25-53 years (40 male and 65 female)
Conclusions
The most frequent HLB alleles in elderly Bulgarians were B18 and B*51, though differences were not statistically significant after correcting for multiple testing
Identifier
HLA-B
In Other Studies (IDs)
116 195
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
HLA-B
Aliases
AS; HLAB; B-4901 
Common name
major histocompatibility complex, class I, B 
Description
HLA-B 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, exon 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-B alleles have been described. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
142830
Ensembl
ENSG00000234745
UniProt/Swiss-Prot
1B07_HUMAN
Entrez Gene
3106
UniGene
77961
HapMap
View on HapMap

Homologs in model organisms

No homologs found

References

Naumova et al. (2004)

Other variants which are also part of this study