MYLK encodes myosin light chain kinase (1,914 aa). Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Highest expression in Esophagus Muscularis (441.2 TPM) and Colon Sigmoid (430.1 TPM).

Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 is associated with mutations in the MYLK gene on chromosome 3.

The MYLK protein participates in MYLK (MLCK) Active Calmodulin Binding pathway.

MYLK is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 3.5.

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

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

No clinical trials have been registered for megacystis-microcolon-intestinal hypoperistalsis syndrome 1.

26 publications have been identified in PubMed for megacystis-microcolon-intestinal hypoperistalsis syndrome 1. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (12%).

Recent Publications

• Song JY (2026). [PMID: 41797110](https://pubmed.ncbi.nlm.nih.gov/41797110/). *Journal of pediatric urology*. [Basic Science / Preclinical]

• Jangir H (2026). [PMID: 41416657](https://pubmed.ncbi.nlm.nih.gov/41416657/). *Fetal and pediatric pathology*. [Case Report / Case Series]

• Krishnasarma R (2026). [PMID: 41591435](https://pubmed.ncbi.nlm.nih.gov/41591435/). *Pediatric radiology*. [Review / Meta-Analysis]

• Montero-Hernández M (2026). [PMID: 42063440](https://pubmed.ncbi.nlm.nih.gov/42063440/). *Front Pediatr*. [Case Report / Case Series]

• Ravi N (2025). [PMID: 40364235](https://pubmed.ncbi.nlm.nih.gov/40364235/). *Journal of clinical medicine*. [Review / Meta-Analysis]

• Tian L (2025). [PMID: 39951033](https://pubmed.ncbi.nlm.nih.gov/39951033/). *Indian journal of pediatrics*. [Clinical Trial Publication]

• Ogasawara H (2025). [PMID: 41194789](https://pubmed.ncbi.nlm.nih.gov/41194789/). *Surgical case reports*. [Case Report / Case Series]

• Onishi S (2025). [PMID: 40094120](https://pubmed.ncbi.nlm.nih.gov/40094120/). *World journal of pediatric surgery*. [Basic Science / Preclinical]

• Almoosa N (2025). [PMID: 40539155](https://pubmed.ncbi.nlm.nih.gov/40539155/). *Cureus*. [Case Report / Case Series]

• Rahim N (2025). [PMID: 40886059](https://pubmed.ncbi.nlm.nih.gov/40886059/). *Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition*. [Case Report / Case Series]