While many genetic diseases are caused by defects in an enzyme

While many genetic diseases are caused by defects in an enzyme

While many genetic diseases are caused by defects in an enzyme 150 150 Peter

While many genetic diseases are caused by defects in an enzyme, mutations in regulatory proteins can also have serious consequences. For this week, search GeneReviews for a genetic disorder that is caused by a mutation in a regulatory gene.  This gene may affect any process or system, but its main function may not be enzymatic.  After conducting your research, answer the following questions:

Gene and Gene Product:

Disease/Condition name:

The mutation(s) which causes the disease/condition, describing the effects on the cell/tissue/body:

Treatments for the disease condition (include any standard treatments as well as any current or future gene therapy treatments):

Be sure to list all pertinent references in APA style.

Please choose an original topic for your post.  Feel free to claim a topic at the beginning of the week.  Please make your first post by Wednesday evening and be sure to respond to all posts in your thread.  Respond to at least one other student by Sunday evening.  Please keep HIPAA guidelines in mind if you want to share work experiences.