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This locus encodes an ankryin repeat domain-containing protein.
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Cow (Bovine) Polyclonal ANKRD11 Primary Antibody for IHC, WB - ABIN2777996
Zhang, Yeung, Li, Tsai, Dinh, Wu, Li, Chen: Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. in The Journal of biological chemistry 2004
These findings point out the importance of screening ANKRD11 in young CdLS (show NIPBL Antibodies) patients who were found to be negative for mutations in the five known CdLS (show NIPBL Antibodies) genes.
Further delineation of the KBG syndrome phenotype on large patients cohort caused by ANKRD11 aberrations has been presented.
we conclude that severe short stature, intellectual disability, and macrodontia are the main characteristics in KBG syndrome related to ANKRD11 mutation
ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
AIB1 (show NCOA3 Antibodies), AIB1 (show NCOA3 Antibodies)-delta4 and ANCO1 (show ANKRD12 Antibodies) are important determinants of endocrine and growth factor responsiveness in breast cancer.
The complete neurological and psychiatric features observed in two patients with KBG syndrome due to ANKRD11 mutations, are reported.
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
aberrant DNA methylation (show HELLS Antibodies) of three CpGs in a 19 bp region within the ANKRD11 promoter may be responsible for its down-regulation in breast cancer.
Mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function.
ANKRD11 is a candidate gene for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
A Glu (show GCG Antibodies)->Lys (show LYZ Antibodies) missense mutation in a highly conserved region causes osteopenia and craniofacial abnormalities. Homozygosity causes embryo death. Ankrd11 is a genetic regular of bone homeostasis.
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.
ankyrin repeat domain 11
, ankyrin repeat domain-containing protein 11-like
, ankyrin repeat domain-containing protein 11
, ankyrin repeat-containing cofactor 1
, nasopharyngeal carcinoma susceptibility protein