HLA-C gene

major histocompatibility complex, class I, C

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in the presentation of foreign antigens to the immune system.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Human immunodeficiency virus type 1, susceptibility to
  • Psoriasis susceptibility 1

Cytogenetic Location: 6p21.3, which is the short (p) arm of chromosome 6 at position 21.3

Molecular Location: base pairs 31,268,749 to 31,272,136 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.3, which is the short (p) arm of chromosome 6 at position 21.3
  • D6S204
  • HLA-JY3
  • HLAC
  • HLC-C
  • MHC
  • PSORS1