Disease relevance of Tor1b

• These data suggest that gene interaction between DQ1 and DQ2 (or alleles at associated loci), possibly from gene complementation of trans-associated surface molecules, influences the autoimmune response in primary Sjögren's syndrome [1].

High impact information on Tor1b

• An analysis of all possible combinations at DQ has shown that the entire effect was due to heterozygotes expressing the DQ1 and DQ2 alleles [1].
• Overexpression of both wild-type torsinB and mutant torsinA lead to enrichment of the protein in the nuclear envelope and formation of large cytoplasmic inclusions [2].
• TOR1A and its homologue TOR1B (alias DQ1) are located adjacent to each other on human chromosome 9q34 [3].
• Thus, torsinA expression was highest in the cerebral cortex from embryonic day 15 (E15)-E17 and in the striatum from E17-P7, while torsinB was highest in the cerebral cortex between P7-P14 and in the striatum from P7-P30 [4].
• Three of the mAbs, 13B6, 17F8 and 19A1, bound to all DQ1, 4, 8 or 9 positive B-lymphoblastoid cell lines (B-LCLs) and transfectants tested, i.e. cells carrying the DQB1 genes 0302-3, 0401-2, 0501-3, 0601-4 and 0609 irrespective of the accompanying DQA1 gene [5].

Biological context of Tor1b

• The genes in each locus are transcribed but only those designated DQ1 express class II molecules at the surface of mouse L cells following DNA-mediated gene transfection [6].

Anatomical context of Tor1b

• Immunolocalization studies revealed that torsinA and torsinB were widely expressed throughout the mouse central nervous system [7].
• Immunoprecipitation studies in cultured cells and human brain tissue indicate that torsinA and torsinB are associated with each other in cells [2].

Other interactions of Tor1b

• In Western blot analysis of mouse brain homogenates, the antibodies specifically recognized 33 kDa endogenous torsinA and 52 kDa endogenous torsinB [7].

References