In: Anatomy and Physiology
If a mutation occurs in someone's TAT gene, they will produce insulin normal amounts of insulin.
TAT- tyrosineamino transferase
TCG - CYTOPLASMIC ARGININE
The TAT is a Protein Coding gene which provides instructions for making a liver enzyme called tyrosine aminotransferase. This enzyme is the first in a series of five enzymes that work to break down the amino acid tyrosine, a protein building block found in many foods. Here mutation occurred in TAT gene (TAT gene is read as TCG), Mutations in TAT gene leads to tyrosinemia. This condition often affects the eyes, skin, and mental development. Most of these mutations change single DNA building blocks (base pairs) within the TAT gene. Research suggests that the altered TAT gene produces a tyrosine aminotransferase enzyme with reduced activity. Other mutations delete all or part of the TAT gene, eliminating enzyme activity. As a result of these mutations, tyrosine is not properly broken down. Tyrosine levels are elevated and some tyrosine is converted into other molecules that may be toxic to cells.
TAT activity is controlled by insulin. Insulin inhibits the transcription of TAT. But TAT has no effect on insulin production. So cells will produce normal amount of insulin. There is no reduction.
If mutation occurs in any of the sequence of the genes of insulin it leads to the production of abnormal/less active insulin. But insulin will be produced.