1. 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

2. 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

3. 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

4. References
NCBI. TG thyroglobulin [online] [cited March 4]. Available at URL:
GHR. TG & Congenital Hypothyroidism [online] [cited 2015 march 4] Avaible at URL’s: