Sequence of this protein is as follows: MESSAKMESG GAGQQPQPQP QQPFLPPAAC FFATAAAAAA AAAAAAAQSA QQQQQQQQQQ QQAPQLRPAA DGQPSGGGHK SAPKQVKRQR SSSPELMRCK RRLNFSGFGY SLPQQQPAAV ARRNERERNR VKLVNLGFAT LREHVPNGAA NKKMSKVETL RSAVEYIRAL QQLLDEHDAV SAAFQAGVLS PTISPNYSND LNSMAGSPVS SYSSDEGSYD PLSPEEQELL DFTNWF
ASCL1 (also known as ASH1) is a basic helix-loop-helix transcription factor that is required for early development of the nervous system. Expressed in fetal brain, ASCL1 is essential for the proper development of autonomic neurons and for the survival of subsets of autonomic neurons. ASCL1 interaction with MEF-2A may regulate the expression of specific genes that are critical for the formation of distinct neuronal circuits within the central nervous system. The high level of ASCL1 expression in neuroendocrine tumors, such as medullary thyroid cancer, small cell lung cancer and lung cancer with neuroendocrine features may provide a useful marker for cancers with neuroendocrine features. Mapping to human chromosome 12, the ASCL1 gene contains a trinucleotide repeat region, making this locus a candidate for inherited disease.
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Protein Aliases: achaete scute protein; achaete-scute complex homolog 1; achaete-scute complex-like 1; Achaete-scute homolog 1; ASH-1; bHLHa46; Class A basic helix-loop-helix protein 46; KMT2H
Gene Aliases: ASCL1; ASH1; BHLHA46; HASH1; MASH1
UniProt ID: (Human) P50553
Entrez Gene ID: (Human) 429
Molecular Function: basic helix-loop-helix transcription factor