Gene Symbol | AUTS2 |
Entrez Gene ID | 26053 |
Full Name | AUTS2, activator of transcription and developmental regulator |
Synonyms | FBRSL2,MRD26 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal dominant 26, 615834 (3) |