DEAF1, Official Symbol DEAF1provided by HGNC Official Full Name DEAF1 transcription factorprovided by HGNC Primary source HGNC:HGNC:14677 See related Ensembl:ENSG00000177030 MIM:602635; AllianceGenome:HGNC:14677 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPN; NUDR; VSVS; MRD24; ZMYND5; NEDHELS 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] Expression Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 8.8) and 25 other tissues See more Orthologs mouse all