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MICPCH
Chr XX-linkedcalcium/calmodulin dependent serine protein kinase
Also known as: CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8
This gene encodes a calcium/calmodulin-dependent serine protein kinase that functions as a synaptic scaffold protein in the brain and belongs to the MAGUK protein family. Mutations cause intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, affecting both cognitive development and specific brain structures including the brainstem and cerebellum. The condition follows X-linked inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MICPCH?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
MICPCH · 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.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools