NP_001243112.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
297,913 Da
NCBI Official Full Name
ankyrin repeat domain-containing protein 11
NCBI Official Synonym Full Names
ankyrin repeat domain 11
NCBI Protein Information
ankyrin repeat domain-containing protein 11; ankyrin repeat-containing cofactor 1; nasopharyngeal carcinoma susceptibility protein
UniProt Protein Name
Ankyrin repeat domain-containing protein 11
UniProt Synonym Protein Names
Ankyrin repeat-containing cofactor 1
UniProt Synonym Gene Names
UniProt Entry Name
ANR11_HUMAN
NCBI Summary for ANKRD11
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]
UniProt Comments for ANKRD11
ANKRD11: May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Defects in ANKRD11 are the cause of KBG syndrome (KBGS). A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.
Protein type: Transcription, coactivator/corepressor; Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: 16q24.3
Cellular Component: nucleoplasm; cytoplasm; plasma membrane; nucleus
Biological Process: in utero embryonic development; skeletal morphogenesis; multicellular organism growth; tissue homeostasis; odontogenesis of dentine-containing teeth
Disease: Kbg Syndrome
Research Articles on ANKRD11
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Products associated with ANKRD11 elisa kit
Diseases associated with ANKRD11 elisa kit
Organs/Tissues associated with ANKRD11 elisa kit
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