{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Biel A"],"funding":["National Institute of Neurological Disorders and Stroke","NINDS NIH HHS"],"pagination":["858582"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9008325"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15"],"pubmed_abstract":["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 loc"],"journal":["Frontiers in molecular neuroscience"],"pubmed_title":["AUTS2 Syndrome: Molecular Mechanisms and Model Systems."],"pmcid":["PMC9008325"],"funding_grant_id":["R01 NS092339"],"pubmed_authors":["Castanza AS","Hester ME","Wester JC","Biel A","Chifamba L","Rutherford R","Fair SR","Hevner RF"],"additional_accession":[]},"is_claimable":false,"name":"AUTS2 Syndrome: Molecular Mechanisms and Model Systems.","description":"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 loc","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-19T16:20:32.22Z","creation":"2025-02-19T01:07:09.104Z"},"accession":"S-EPMC9008325","cross_references":{"pubmed":["35431798"],"doi":["10.3389/fnmol.2022.858582"]}}