1. Chapter X: Chromosome X
DNA Sequence
Chromosome
Name of Protein
G coupled
protein
receptor
40,553bp X
Name of Gene
GPR143
transcription
Amino acid sequence
mRNA
404 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. part of a signaling pathway that controls the growth and maturation of melanosomes
Condition/Disease
Ocular Albinism

2. Description of Ocular Albinism
Symptoms and characteristics
Ocular Albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
Symptoms:
Absence of color in the hair, skin, or iris of the eye
Lighter than normal skin and hair
Patchy, missing skin color
Rapid eye movements, cross eyed etc.

3. Description of Ocular Albinism(cont.)
Who is affected? Anyone, but what you should realize is that ocular albinism is an inherited trait. It’s passed down once someone has it in the family it is then passed down to their kids and their kids’ kids.
Outlook or quality of life: Ocular albinism is characterized by severely impaired sharpness of vision and problems with combining vision from both eyes to perceive depth. Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light
Treatments:The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder. Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements.
Researcher: JSB

4. References
"Ocular Albinism." Genetics Home Reference. N.p., n.d. Web. 09 Mar
"Ocular Manifestations of Albinism ." Ocular Manifestations of Albinism. N.p., n.d. Web. 10 Mar
(Easybib was rough)