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Article

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

Journal of immunology (Baltimore, Md. : 1950) - 15 Dec 2007

Simkus Carrie, Anand Priyanka, Bhattacharyya Anamika, Jones Jessica M

Abstract excerpt

The RAG1 and RAG2 proteins are required to assemble mature Ag receptor genes in developing lymphocytes. Hypomorphic mutations in the gene encoding RAG1 are associated with Omenn syndrome, a primary immunodeficiency. We explored the biochemical defects resulting from a mutation identified in an Omenn syndrome patient which generates an amino acid substitution in the RAG1 RING finger/ubiquitin ligase domain (C325Y...

Read the complete abstract on PubMed

Topics

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Share to Amino Acid Sequence
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Protein Folding

Share to Protein Structure, Tertiary

Share to Recombination, Genetic

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 18056378
DOI: 10.4049/jimmunol.179.12.8332

Genes

RAG1
RAG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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