ANKRD11, Official Symbol ANKRD11provided by HGNC Official Full Name ankyrin repeat domain containing 11provided by HGNC Primary source HGNC:HGNC:21316 See related Ensembl:ENSG00000167522 MIM:611192; AllianceGenome:HGNC:21316 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 T13; LZ16; ANCO1; ANCO-1 Summary This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in ovary (RPKM 8.0), brain (RPKM 7.1) and 25 other tissues See more Orthologs mouse all