biostudies-literatureBiel ANational Institute of Neurological Disorders and StrokeNINDS NIH HHS858582https://www.ebi.ac.uk/biostudies/studies/S-EPMC9008325biostudies-literatureUnknown15AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3' regions (exons 9-19) of the <i>AUTS2</i> gene. Human AUTS2 protein has two major isoforms, full-length (1259 aa) and C-terminal (711 aa), the latter produced from an alternative transcription start site in exon 9. Structurally, AUTS2 contains the putative "AUTS2 domain" (∼200 aa) conserved among AUTS2 and its ohnologs, fibrosin, and fibrosin-like-1. Also, AUTS2 contains extensive low-complexity sequences and intrinsically disordered regions, features typical of RNA-binding proteins. During development, <i>AUTS2</i> is expressed by specific progenitor cell and neuron types, including pyramidal neurons and Purkinje cells. AUTS2 locFrontiers in molecular neuroscienceAUTS2 Syndrome: Molecular Mechanisms and Model Systems.PMC9008325R01 NS092339Castanza ASHester MEWester JCBiel AChifamba LRutherford RFair SRHevner RFfalseAUTS2 Syndrome: Molecular Mechanisms and Model Systems.AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3' regions (exons 9-19) of the <i>AUTS2</i> gene. Human AUTS2 protein has two major isoforms, full-length (1259 aa) and C-terminal (711 aa), the latter produced from an alternative transcription start site in exon 9. Structurally, AUTS2 contains the putative "AUTS2 domain" (∼200 aa) conserved among AUTS2 and its ohnologs, fibrosin, and fibrosin-like-1. Also, AUTS2 contains extensive low-complexity sequences and intrinsically disordered regions, features typical of RNA-binding proteins. During development, <i>AUTS2</i> is expressed by specific progenitor cell and neuron types, including pyramidal neurons and Purkinje cells. AUTS2 loc2022-01-01T00:00:00Z20222025-04-19T16:20:32.22Z2025-02-19T01:07:09.104ZS-EPMC90083253543179810.3389/fnmol.2022.858582