DBN1

Chr 5

drebrin 1

Also known as: D0S117E

NCBI Gene: 1627 ENSG00000113758 UniProt: Q16643 OMIM: 126660

Drebrin encodes an actin cytoskeleton-organizing protein essential for dendritic spine morphogenesis, synaptic plasticity, and formation of immunological synapses. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and brain atrophy. This gene is highly constrained against loss-of-function variants, indicating that even single functional copies are insufficient for normal development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.26

Clinical Summary— DBN1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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