MICAL1

Chr 6

microtubule associated monooxygenase, calponin and LIM domain containing 1

Also known as: MICAL, MICAL-1, NICAL

NCBI Gene: 64780 ENSG00000135596 UniProt: Q8TDZ2 OMIM: 607129

This gene encodes a monooxygenase that regulates actin filament dynamics by oxidizing methionine residues on actin, promoting depolymerization, and also functions in vesicle trafficking and neuronal connectivity development. Mutations cause autosomal dominant intellectual disability with seizures and language delay, as detailed in GeneReviews. The gene shows low constraint against loss-of-function variants, suggesting the associated phenotypes may involve altered protein function rather than simple protein loss.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.92

LOEUF

Multiple*

Mechanism· predicted

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