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Gene : HLA-C Homo sapiens

Name  ? major histocompatibility complex, class I, C Cytological Location  6p21.33
Brief Description  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]
  • synonyms:
  • D6S204,
  • psoriasis susceptibility 1,
  • HLC-C,
  • PSORS1,
  • HLAC,
  • D6S204,
  • HLA-JY3,
  • uc003nsy.4,
  • NM_002117,
  • OTTHUMG00000031154,
  • HGNC:4933,
  • HLA-JY3,
  • HLA-C,
  • MHC,
  • M11886,
  • PSORS1
  • identifiers:
  • 3107,
  • ENSG00000204525,
  • HLA-C

Genome feature

Region: gene ? Length: 3388  
Location: 6:31268749-31272136 reverse strand Cyto location: 6p21.33

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2 Diseases

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111321 SN Ps

5 Cross References

16 Data Sets

95 Homologues

0 Located Features

90 Rna Seq Results