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MCCCHCM
Chr 19ADmicrotubule associated serine/threonine kinase 1
Also known as: MCCCHCM, SAST
The protein is a microtubule-associated serine/threonine kinase that associates with the cytoskeleton and binds beta-2-syntrophin and neuronal nitric oxide synthase through its PDZ domain, co-localizing with dystrophin- and utrophin-associated protein complexes in central nervous system vascular endothelium. Mutations cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, a neurodevelopmental disorder affecting multiple brain structures including the corpus callosum, cerebellum, and cerebral cortex. The condition follows autosomal dominant inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MCCCHCM?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MCCCHCM · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools