Gene: RAG1

Alternate names for this Gene: RAG-1|RNF74

Gene Summary: The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases.

Gene is located in Chromosome: 11

Location in Chromosome : 11p12

Description of this Gene: recombination activating 1

Type of Gene: protein-coding

rs104894286 in RAG1 gene and Combined Cellular And Humoral Immune Defects With Granulomas PMID 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.

PMID 19830075 2009 Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

PMID 17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

PMID 18056378 2007 Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.

PMID 20489056 2010 Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 25516070 2015 Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

PMID 10701853 2000 Prenatal diagnosis of RAG-deficient Omenn syndrome.

PMID 19064334 2009 Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.

PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

PMID 18822103 2009 Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.

rs104894284 in RAG1 gene and Omenn Syndrome PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

PMID 11908269 2002 Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.

PMID 11971977 2002 Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase.

PMID 20956421 2010 Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

PMID 21664875 2011 Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

PMID 17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

PMID 17176792 2007 Necrotizing enterocolitis in an infant with Omenn syndrome.

rs104894291 in RAG1 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 19830075 2009 Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

PMID 17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

PMID 18056378 2007 Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.

PMID 20489056 2010 Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

PMID 10701853 2000 Prenatal diagnosis of RAG-deficient Omenn syndrome.

PMID 25516070 2015 Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 8810255 1996 RAG mutations in human B cell-negative SCID.

PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 18822103 2009 Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.

PMID 19064334 2009 Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.

PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.