Reviewed March 2013
What is the official name of the KANSL1 gene?
The official name of this gene is “KAT8 regulatory NSL complex subunit 1.”
KANSL1 is the gene's official symbol. The KANSL1 gene is also known by other names, listed below.
What is the normal function of the KANSL1 gene?
The KANSL1 gene provides instructions for making a member (subunit) of a group of interacting proteins called the KAT8 regulatory NSL complex. This complex is categorized as a histone acetyltransferase (HAT) complex. It helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes.
The protein produced from the KANSL1 gene is found in most organs and tissues of the body before birth and throughout life. By its involvement in controlling the activity of other genes, this protein plays an important role in the development and function of many parts of the body.
How are changes in the KANSL1 gene related to health conditions?
- Koolen-de Vries syndrome - caused by mutations in the KANSL1 gene
KANSL1 gene mutations or deletions of genetic material including this gene cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a cheerful and sociable disposition, and a variety of physical abnormalities.
Loss of one copy of the KANSL1 gene in each cell impairs normal development and function of various organs and tissues of the body, but the relationship of KANSL1 gene loss to the specific signs and symptoms of Koolen-de Vries syndrome is unclear.
Where is the KANSL1 gene located?
Cytogenetic Location: 17q21.31
Molecular Location on chromosome 17: base pairs 46,029,916 to 46,225,374
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/284058))
The KANSL1 gene is located on the long (q) arm of chromosome 17 at position 21.31.
More precisely, the KANSL1 gene is located from base pair 46,029,916 to base pair 46,225,374 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about KANSL1?
You and your healthcare professional may find the following resources about KANSL1 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK24676)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for KANSL1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284058%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28KANSL1%5BTIAB%5D%29%20OR%20%28%28KDVS%5BTIAB%5D%29%20OR%20%28NSL1%5BTIAB%5D%29%20OR%20%28MSL1v1%5BTIAB%5D%29%20OR%20%28hMSL1v1%5BTIAB%5D%29%20OR%20%28KIAA1267%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/612452)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_KANSL1.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=24565)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/284058)
What other names do people use for the KANSL1 gene or gene products?
- centromere protein 36
- male-specific lethal 1 homolog
- MLL1/MLL complex subunit KANSL1
- MSL1 homolog 1
- non-specific lethal 1 homolog
- NSL complex protein NSL1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding KANSL1?
developmental delay ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE. Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet. 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013. (http://www.ncbi.nlm.nih.gov/pubmed/22482802?dopt=Abstract)
- OMIM: KAT8 REGULATORY NSL COMPLEX, SUBUNIT 1 (http://omim.org/entry/612452)
- Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262. (http://www.ncbi.nlm.nih.gov/pubmed/22544363?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/284058)
- Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257. (http://www.ncbi.nlm.nih.gov/pubmed/22544367?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.