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KANSL1 encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. Additionally we are shipping and many more products for this protein.
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Human Polyclonal KANSL1 Primary Antibody for ICC, IF - ABIN4328744
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells. in Nature methods 2013
In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations.
KANSL1 gene haploinsufficiency is necessary and sufficient to cause the full spectrum of the 17q21.31 microdeletion syndrome.
findings show that de novo loss-of-function mutations in KANSL1 cause a full del(17q21.31) phenotype in 2 unrelated individuals that lack deletion at 17q21.31; findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1
Our results demonstrate the implication of KANSL1 in the manifestation of Koolen-de Vries syndrome phenotypes and extend substantially our knowledge about biological processes affected by these mutations. Clear differences in social behavior and gene expression profiles between Del/+ and Kansl1+/- mice suggested potential roles of other genes affected by the 17q21.31 deletion.
This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes.
MLL1/MLL complex subunit KANSL1
, MSL1 homolog 1
, NSL complex protein NSL1
, centromere protein 36
, male-specific lethal 1 homolog
, non-specific lethal 1 homolog