DefinitionThis section has been translated automatically.
The TAPBP gene (TAPBP stands for "TAPBP TAP Binding Protein") is a protein coding gene located on chromosome 6p21.32. The gene is located within the major histocompatibility complex cluster on chromosome 6. The TAPBP gene encodes a transmembrane glycoprotein that mediates the interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the antigen processing associated transporter (TAP). The TAP transporter is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. Alternative splicing results in three transcript variants encoding different isoforms.
General informationThis section has been translated automatically.
The transport function of the TAP binding protein is essential for optimal loading of the MHC class I molecule with peptides. Up to 4 complexes composed of MHC class I moellcules and the TAPBP protein can be bound to a single TAP molecule. The encoded protein contains a C-terminal double lysine motif (KKKAE) known to hold membrane proteins in the endoplasmic reticulum.
Diseases associated with TAPBP include.
Bare lymphocyte syndrome, type I, due to TAP2 deficiency (de la Salle H et al. 1994; Furukawa H et al. 1999) (OMIM: 604571).
LiteratureThis section has been translated automatically.
de la Salle H et al (1994) Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science 265: 237-241.
Furukawa H et al (1999) Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. J Clin Invest 103: 755-758.
Maeda H et al (1985) Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. Immunogenetics 21: 549-558.
Moins-Teisserenc HAT et al (1999) Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. Lancet 354: 1598-1603.
