NACC1 encodes nucleus accumbens associated 1 (527 aa). Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Highest expression in Cells Cultured fibroblasts (65.0 TPM) and Cells EBV-transformed lymphocytes (61.3 TPM).

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is associated with mutations in the NACC1 gene on chromosome 19.

The NACC1 protein participates in Positive Regulation of CDH1 Gene Transcription pathway.

NACC1 is classified as a druggable target with score 0.0.

Genetic testing for NACC1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 2 very common features, 6 common features.

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

No clinical trials have been registered for neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.

2 publications have been identified in PubMed for neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination. Research spans Case Report / Case Series (100%).

Recent Publications

• Wu J (2024). [PMID: 39421062](https://pubmed.ncbi.nlm.nih.gov/39421062/). *Front Psychiatry*. [Case Report / Case Series]

• Sun DR (2024). [PMID: 38763882](https://pubmed.ncbi.nlm.nih.gov/38763882/). *Zhonghua Er Ke Za Zhi*. [Case Report / Case Series]