NEUROG3 encodes neurogenin 3 (214 aa). Is a transcriptional regulator involved in the control of enteroendocrine cell differentiation. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Highest expression in Brain Hippocampus (1.6 TPM) and Small Intestine Terminal Ileum (1.1 TPM).

Congenital malabsorptive diarrhea 4 is associated with mutations in the NEUROG3 gene on chromosome 10.

The NEUROG3 protein participates in HNF6-dependent synthesis of NEUROG3 protein during morphogenesis, NEUROG3-dependent synthesis of INSM1, and NEUROG3-dependent synthesis of NKX2-2 pathways.

NEUROG3 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for NEUROG3 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for congenital malabsorptive diarrhea 4.

12 publications have been identified in PubMed for congenital malabsorptive diarrhea 4. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (25%).

Recent Publications

• Arsoy HA (2026). [PMID: 42160565](https://pubmed.ncbi.nlm.nih.gov/42160565/). *J Pak Med Assoc*. [Case Report / Case Series]

• Vafadar M (2026). [PMID: 41572200](https://pubmed.ncbi.nlm.nih.gov/41572200/). *BMC pediatrics*. [Case Report / Case Series]

• Goel M (2025). [PMID: 40981014](https://pubmed.ncbi.nlm.nih.gov/40981014/). *Pediatric reports*. [Case Report / Case Series]

• Bowman DM (2025). [PMID: 39978676](https://pubmed.ncbi.nlm.nih.gov/39978676/). *The Journal of biological chemistry*. [Case Report / Case Series]

• Guardiola-Arévalo A (2025). [PMID: 39799751](https://pubmed.ncbi.nlm.nih.gov/39799751/). *Atencion primaria*. [Review / Meta-Analysis]

• Gaibee Z (2025). [PMID: 40174224](https://pubmed.ncbi.nlm.nih.gov/40174224/). *The New England journal of medicine*. [Basic Science / Preclinical]

• Alsarhan A (2025). [PMID: 41357560](https://pubmed.ncbi.nlm.nih.gov/41357560/). *ACG case reports journal*. [Basic Science / Preclinical]

• Lenti MV (2025). [PMID: 40129317](https://pubmed.ncbi.nlm.nih.gov/40129317/). *United European gastroenterology journal*. [Basic Science / Preclinical]

• Rahman RK (2025). [PMID: 39621115](https://pubmed.ncbi.nlm.nih.gov/39621115/). *Pediatric nephrology (Berlin, Germany)*. [Case Report / Case Series]

• Barbetti F (2024). [PMID: 39344692](https://pubmed.ncbi.nlm.nih.gov/39344692/). *Journal of diabetes investigation*. [Review / Meta-Analysis]