What does this protein make up or do? Congenital hypothyroidism

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Presentation transcript:

What does this protein make up or do? Congenital hypothyroidism Chapter 8: Chromosome 8 DNA Sequence Chromosome Name of Protein 267,946 bp 8 Name of Gene Thyroglo-buling TG transcription Amino acid sequence mRNA 2768 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Supports the brains developmental and human growth Condition/Disease Congenital hypothyroidism

Description of Congenital Hypothyroidism Symptoms and characteristics Congenital Hypothyroidism is a birth defect and is the result of a partial or complete loss of the thyroid function There are no “symptoms” but it is seen at birth as the thyroid will be out of place or missing If it is treated within the first month of birth the baby has a possibility to grow normally

Description continued. Who is affected? Infants are affected. Outlook or quality of life Without early treatment there is a high risk of the baby/infant not growing properly and can lead to brain dysfunctions, stunted growth and at the biggest cases of missing thyroids, death. Researcher: AH

References NCBI. TG thyroglobulin [online]. 2015. [cited 2015 March 4]. Available at URL: http://www.ncbi.nlm.nih.gov/gene/7038. GHR. TG & Congenital Hypothyroidism [online]. 2006. [cited 2015 march 4] Avaible at URL’s: http://ghr.nlm.nih.gov/gene/TG http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism