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Malignant cells displayed moderate to strong nuclear and cytoplasmic immunoreactivity.
GENE INFORMATION
Gene name
ANKRD11 (HGNC Symbol)
Synonyms
LZ16, T13
Description
Ankyrin repeat domain 11 (HGNC Symbol)
Entrez gene 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]