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DEE5

Chr 9AD

spectrin alpha, non-erythrocytic 1

Also known as: DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2

NCBI Gene: 6709 OMIM: 613477

This gene encodes an alpha spectrin that functions as a cytoskeletal scaffold protein to stabilize the plasma membrane and organize intracellular organelles, and is also involved in DNA repair and cell cycle regulation. Mutations cause developmental and epileptic encephalopathy 5, which presents in early infancy with seizures and developmental impairment. The condition follows an autosomal dominant inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM

Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

OMIM ResearchGenerating clinical summary…