LongevityMap variant

Entry Details

Longevity Association: Non-significant
Population: Bulgarian
Study Design: 10 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 HLC alleles in elderly Bulgarians were C*07 and C*04, though differences were not statistically significant after correcting for multiple testing

HGNC symbol: HLA-C
Aliases: MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3
Common name: major histocompatibility complex, class I, C
Description: HLA-C 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 endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, 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. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]
OMIM: 142840
Ensembl: ENSG00000204525
UniProt/Swiss-Prot: 1C07_HUMAN
Entrez Gene: 3107
UniGene: 656020
HapMap: View on HapMap