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Sequence of this protein is as follows: GFATLREHVP NGAANKKMSK VETLRSAVEY IRALQQLLDE HDAVSAAFQA GVLSPTISPN YSNDLNSMAG SPVSSYSSDE GSYDPLSPEE QELLDFTNWF
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: ASCL1; ASH1; BHLHA46; HASH1; MASH1
UniProt ID: (Human) P50553
Entrez Gene ID: (Human) 429