KANSL1 : KAT8 regulatory NSL complex subunit 1
Description
The KANSL1 (KAT8 regulatory NSL complex subunit 1) is a protein-coding gene located on chromosome 17.
The KANSL1 gene provides instructions for producing a protein that is a subunit of the KAT8 regulatory NSL complex. This complex modifies chromatin, the DNA and protein structure that packages DNA into chromosomes, and regulates gene activity. The KANSL1 protein is found in many organs and tissues throughout life, playing a vital role in development and function.
The KANSL1 protein, as part of the NSL complex, plays a crucial role in the acetylation of histone H4 on specific lysine residues. This acetylation process is believed to be involved in the regulation of gene transcription.
KANSL1 is also known as C17DELq21.31, CENP-36, DEL17Q21.31, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1.
Associated Diseases
- Koolen-De Vries syndrome due to a point mutation
- Koolen-De Vries syndrome
- 17q21.31 microdeletion syndrome
- Koolen-de Vries syndrome
