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NEDSSCC

Chr 12AR

HECT domain E3 ubiquitin protein ligase 4

Also known as: C12ord51, C12orf51, HEEL, NEDSSCC, POTAGE

NCBI Gene: 283450 OMIM: 620250

This protein functions as a ubiquitin-protein transferase involved in glucose homeostasis and metabolism. Autosomal recessive mutations cause a neurodevelopmental disorder characterized by seizures, spasticity, and complete or partial agenesis of the corpus callosum, affecting the central nervous system and brain development.

OMIM ResearchSummary from RefSeq, OMIM

Predicted to enable ubiquitin protein ligase activity. Involved in glucose homeostasis and glucose metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosumMIM #620250

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

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