LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Irish (Belfast)
Study Design
100 control samples (59% female, 41% male with an age-range of 19-45 years old) and 93 aged samples (70% female, 30% male with an age-range of 80-97 years old) were examined
Conclusions
No age-related allele or genotype frequencies were observed
Identifier
HLA-B
In Other Studies (IDs)
135 195
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

Ross et al. (2003)

Other variants which are also part of this study