Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

ASCL1

contributors: mct/npt/pgu - updated : 06-05-2015

HGNC name	achaete-scute complex homolog 1 (Drosophila)
HGNC id	738

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CCHS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in differentiating neuroblastoma cells tumoral     --over   in a majority of neuroblastoma tumors and cell lines tumoral     --over   in progressive astrocytoma in 85.71 p100 of grade II diffuse astrocytoma, 90 p100 of grade III anaplastic astrocytoma tumoral     --over   87.5 p100 of secondary glioblastoma multiforme constitutional         results in hypoplasia of both the arcuate and ventromedial nuclei tumoral     --other   constitutive expression in lung epithelium promotes remodeling through multiple pathways that are commonly activated during lung carcinogenesis

Susceptibility

to Parkinson disease (in association with PHOX2B)

Variant & Polymorphism repeat	polyglutamine length variant with 13 repeats may exert a protective role for Parkinson disease in a Caucasian population

Candidate gene	for congenital hypoventilation syndrome (CCHS4) or modifier of PHOX2B
Marker
Therapy target

ANIMAL & CELL MODELS

	In Mash1-deficient mice, defects in thalamocortical axon pathfinding were found to be correlated with altered cell domain
	mice lacking Ascl1 in the cerebellum have a major decrease in three types of interneurons with a tendency toward a loss of later-born interneurons, as well as an imbalance of oligodendrocytes and astrocytes