Gene Symbol | ANKRD11 |
Entrez Gene ID | 29123 |
Full Name | ankyrin repeat domain 11 |
Synonyms | ANCO-1,ANCO1,LZ16,T13 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | KBG syndrome, 148050 (3) |