10 Questions
What is the name of the protein that has a major influence on natural skin color variation?
Sodium/potassium/calcium exchanger 5
What is the typical range of visual acuity for individuals with OCA7?
6/18 to 3/60
What is the role of the protein containing leucine-rich repeat in OCA7?
Melanocyte differentiation
What is the location of the mutation causing OCA7?
Chromosome 10
What is the purpose of DNA sequencing in diagnosing OCA?
To determine the type of OCA accurately
At what stage should a patient with OCA be evaluated by an ophthalmologist?
At the time of diagnosis
What is the benefit of using dark glasses or a hat in OCA?
Reducing sun sensitivity
What is the name of the gene that encodes the protein associated with OCA7?
SLC24A5
What is the effect of OCA7 on hair color?
Blond to dark brown hair
What is the purpose of protecting the skin from sun exposure in OCA?
To reduce the risk of sun burns, skin damage, and skin cancer
Alkaptonuria is a rare inherited genetic disorder where the body cannot process certain amino acids, causing the accumulation of homogentisic acid in the blood and tissues. It is caused by a mutation in the HGD gene.
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