The normal RUNX1 protein, produced from the RUNX1 gene, is part of a protein complex called core binding factor (CBF) that attaches (binds) to DNA and turns on genes involved in blood cell development. The normal ETO protein, produced from the RUNX1T1 gene, turns off gene activity.
What protein does chromosome 21 code for?
Kcnj6, the gene that codes for the GIRK2 subunit, is found on human chromosome 21.
What is the 21 chromosome responsible for?
Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 48 million base pairs (the building material of DNA) representing about 1.5 percent of the total DNA in cells.
What is the purpose of the protein in a chromosome?
A histone is a protein that provides structural support to a chromosome. In order for very long DNA molecules to fit into the cell nucleus, they wrap around complexes of histone proteins, giving the chromosome a more compact shape. Some variants of histones are associated with the regulation of gene expression.
What happens if you are missing chromosome 21?
The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 21q deletion include developmental delay , intellectual disability , behavioral problems, and distinctive facial features.
Is Trisomy 21 curable?
There is no cure for Down syndrome, but treatment is available to help your child. Your child may need physical, occupational, and speech therapy to help with their development. Many children are helped with early intervention and special education.
Which protein is affected in Down syndrome?
The gene for the beta-amyloid precursor protein that is cut to make beta-amyloid protein is on chromosome 21, which is present in triplicate in most people with Down syndrome.