Ankyrin repeat domain 11 is a
protein that in humans is encoded by the ANKRD11
gene.[5]
Function
This locus encodes an
ankyrin 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.
Lim SP, Wong NC, Suetani RJ, Ho K, Ng JL, Neilsen PM, Gill PG, Kumar R, Callen DF (November 2012). "Specific-site methylation of tumour suppressor ANKRD11 in breast cancer". Eur. J. Cancer. 48 (17): 3300–9.
doi:
10.1016/j.ejca.2012.03.023.
PMID22538187.
Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P (January 2013). "Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations". Am. J. Med. Genet. B Neuropsychiatr. Genet. 162B (1): 17–23.
doi:
10.1002/ajmg.b.32113.
PMID23184435.
S2CID31299809.
Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J (April 2013). "Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome". Am. J. Med. Genet. A. 161A (4): 835–40.
doi:
10.1002/ajmg.a.35739.
PMID23494856.
S2CID25326354.
Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (February 2015). "Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome". Hum. Genet. 134 (2): 181–90.
doi:
10.1007/s00439-014-1509-2.
hdl:1874/332012.
PMID25413698.
S2CID2607611.
Ankyrin repeat domain 11 is a
protein that in humans is encoded by the ANKRD11
gene.[5]
Function
This locus encodes an
ankyrin 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.
Lim SP, Wong NC, Suetani RJ, Ho K, Ng JL, Neilsen PM, Gill PG, Kumar R, Callen DF (November 2012). "Specific-site methylation of tumour suppressor ANKRD11 in breast cancer". Eur. J. Cancer. 48 (17): 3300–9.
doi:
10.1016/j.ejca.2012.03.023.
PMID22538187.
Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P (January 2013). "Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations". Am. J. Med. Genet. B Neuropsychiatr. Genet. 162B (1): 17–23.
doi:
10.1002/ajmg.b.32113.
PMID23184435.
S2CID31299809.
Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J (April 2013). "Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome". Am. J. Med. Genet. A. 161A (4): 835–40.
doi:
10.1002/ajmg.a.35739.
PMID23494856.
S2CID25326354.
Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (February 2015). "Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome". Hum. Genet. 134 (2): 181–90.
doi:
10.1007/s00439-014-1509-2.
hdl:1874/332012.
PMID25413698.
S2CID2607611.