Gene Symbol | DEAF1 |
Entrez Gene ID | 10522 |
Full Name | DEAF1, transcription factor |
Synonyms | MRD24,NUDR,SPN,ZMYND5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal dominant 24, 615828 (3); ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3) |