Susceptibility to insulin-dependent diabetes mellitus and short cytoplasmic ATP-binding domain TAP2*01 alleles

Tissue Antigens. 1994 Sep;44(3):184-8. doi: 10.1111/j.1399-0039.1994.tb02377.x.

Abstract

TAP2 genes are placed within the HLA complex, have limited genetic variability and encode two main groups of peptide transporter proteins, the so-called TAP2*01 alleles, with a short ATP-binding domain, and the TAP2*0201 allele with a long domain. These transporters carry antigenic peptides from cytoplasm across the endoplasmic reticulum membrane to release them into nascent HLA class I molecules, which will then travel towards the plasma membrane. The shorter TAP2*01 alleles are present in 99% of diabetics and 90% of controls; these alleles may add slight, although significant and independent, susceptibility to diabetes, particularly in subjects carrying non-Asp 57 at beta DQ. Moreover, this increased susceptibility is not due to linkage disequilibrium with other HLA markers (i.e.: DR4), which does not exist in our Spanish population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 3
  • ATP-Binding Cassette Transporters / chemistry
  • ATP-Binding Cassette Transporters / genetics*
  • Alleles*
  • Amino Acid Sequence
  • Base Sequence
  • Diabetes Mellitus, Type 1 / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Molecular Sequence Data
  • Oligonucleotide Probes

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 3
  • ATP-Binding Cassette Transporters
  • Oligonucleotide Probes
  • TAP2 protein, human