Wilson disease protein [SEP] chromosome
Gene.
Wilson disease protein is associated with "ATP7B" gene,approximate 80 Kb, located on human chromosome 13 and consists of 21 exons. The mRNA transcribed by "ATP7B" gene has a size of 7.5 Kb, and which encodes a protein of 1465 amino acids.
The gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least two putative copper
the active X chromosome will transcribe mRNA and produce protein. The exome sequencing provides a dataset that shows target sequences, giving an indication of disease-related protein coding regions. mRNA sequencing is then used on these regions to focus on the X chromosome and find single nucleotide polymorphisms (SNP) that are associated with the disease. These SNPs are genotyped and traced to parental contributor to calculate the ratio of inactivation, based on how much genetic information each parent donated and how much of each parental allele is expressed. These levels of