Genomic coordinate (human 11:36,546,140 RAG1).
Genomic coordinate (human 11:36,616,107 RAG2).
Cytoband (human 11p12 RAG1 & RAG2).
Here I 🎁 present: “RAG-1/2 Recombinase Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=D76.1
INTRODUCTION.
Recombination-Activating Gene 1-&-2 (RAG-1/2) recombinase pleiotropic disorders represent a remarkably diverse spectrum of Inborn Errors of Immunity (IEI). While the RAG-1/2 enzyme complex is strictly required to initialize V(D)J recombination—the DNA-shuffling process that generates T-cell receptors (TCR) and B-cell receptors (BCR)—mutations in these genes do not produce a single disease. Instead, they cause a pleiotropic clinical continuum dictated primarily by the amount of residual enzymatic activity left intact.
There is evidence inborn errors of immunity (IEI) recombination-activating gene 1-&-2 (RAG-1/2) recombinase pleiotropic disorders is encoded on cytoband 11p12 in humans.
