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Some malignant gliomas displayed moderate cytoplasmic immunoreactivity. Remaining malignant cells were negative.
GENE INFORMATION
Gene name
ASCL1 (HGNC Symbol)
Synonyms
ASH1, bHLHa46, HASH1
Description
Achaete-scute family bHLH transcription factor 1 (HGNC Symbol)
Entrez gene summary
This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]