Official Full Name

ankyrin repeat domain 11

Background

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.

Synonyms

ANKRD11; ankyrin repeat domain 11; ankyrin repeat domain-containing protein 11; LZ16; T13; ANCO 1; ANCO1; Ankyrin repeat containing cofactor 1; Ankyrin repeat domain containing protein 11; ankyrin repeat-containing cofactor 1; ankyrin repeat-containing protein 11; nasopharyngeal carcinoma susceptibility protein; KBGS; ANCO-1