KANSL1

KAT8 regulatory NSL complex subunit 1

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.

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.

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31

Molecular Location: base pairs 46,029,916 to 46,225,374 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31
  • CENP-36
  • centromere protein 36
  • DKFZP727C091
  • hMSL1v1
  • KANL1_HUMAN
  • KDVS
  • KIAA1267
  • male-specific lethal 1 homolog
  • MLL1/MLL complex subunit KANSL1
  • MSL1 homolog 1
  • MSL1v1
  • non-specific lethal 1 homolog
  • NSL complex protein NSL1
  • NSL1