MCPH1 encodes microcephalin 1 (835 aa). Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex Highest expression in Cells EBV-transformed lymphocytes (8.6 TPM) and Artery Tibial (6.7 TPM).

Microcephaly 1, primary, autosomal recessive is associated with mutations in the MCPH1 gene on chromosome 8.

The MCPH1 protein participates in MCPH1 sequesters condensin II and ZNF827 and NR2C2,NR2F2 recruit NuRD to telomeric chromatin pathways.

MCPH1 is classified as a druggable target (Kinase category) with score 4.0.

Genetic testing for MCPH1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features.

No clinical trials have been registered for microcephaly 1, primary, autosomal recessive.

5 publications have been identified in PubMed for microcephaly 1, primary, autosomal recessive. Research spans Review / Meta-Analysis (60%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Recent Publications

• Chakraborty S (2025). [PMID: 41074654](https://pubmed.ncbi.nlm.nih.gov/41074654/). *Fly*. [Review / Meta-Analysis]

• Yoon AH (2025). [PMID: 39235599](https://pubmed.ncbi.nlm.nih.gov/39235599/). *Abdominal radiology (New York)*. [Review / Meta-Analysis]

• Ji W (2025). [PMID: 39979118](https://pubmed.ncbi.nlm.nih.gov/39979118/). *Journal of proteome research*. [Epidemiology / Natural History]

• Charbel C (2025). [PMID: 41284030](https://pubmed.ncbi.nlm.nih.gov/41284030/). *Abdominal radiology (New York)*. [Review / Meta-Analysis]

• Luo S (2024). [PMID: 38818167](https://pubmed.ncbi.nlm.nih.gov/38818167/). *Heliyon*. [Basic Science / Preclinical]