Features include always present findings: Hypertonia, Poor head control, Reduced eye contact, and Overactive reflexes (hyperreflexia) and others. 29 total HPO annotations.

IREB2 encodes iron responsive element binding protein 2 (963 aa). RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Highest expression in Cells EBV-transformed lymphocytes (25.6 TPM) and Adrenal Gland (23.5 TPM).

Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia is associated with mutations in the IREB2 gene on chromosome 15.

The IREB2 protein participates in SKP1:FBXL5:CUL1:NEDD8 ubiquitinylates IREB2 and CUL1, SKP1, FBXL5 bind pathways.

IREB2 is classified as a druggable target with score 0.0.

Genetic testing for IREB2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 23 always present features.

No clinical trials have been registered for neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.

2 publications have been identified in PubMed for neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Guo Z (2025). [PMID: 41234066](https://pubmed.ncbi.nlm.nih.gov/41234066/). *Acta Biochim Biophys Sin (Shanghai)*. [Basic Science / Preclinical]

• Guo Z (2024). [PMID: 39587636](https://pubmed.ncbi.nlm.nih.gov/39587636/). *Orphanet J Rare Dis*. [Case Report / Case Series]