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Achondroplasia is the result of a mutated gene.
a. What is the chromosomal location of this gene?
The chromosomal location of the gene is 4p16.3.
(http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800)
b. What protein does this gene code for? What is the normal function of that protein?
This gene codes for the fibroblast growth factor receptor-3 protein. The normal function of this protein is to regulate bone growth by slowing the production of chondrocytes.
(http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.256)
c. What is the most common mutation?
The most common mutation of the FGFR3 gene is a glycine to arginine change located in, at nucleotide 1138 of cDNA...
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