Answer the following based on the PAH gene for the geneti disorder, PKU. Use the
ID: 255289 • Letter: A
Question
Answer the following based on the PAH gene for the geneti disorder, PKU. Use the following link to help answering the questions (https://www.ncbi.nlm.nih.gov/guide/howto/find-gen-phen/)
a. The name of the gene, its Gene ID and corresponding MIM #, and its chromosomal location;
b. The size of the genomic sequence;
c. The size of the mRNA sequence; if there are multiple mRNAs, then the longest;
d. The number of exons;
e. The size of the encoded protein, in kilodaltons and in number of amino acids;
f. Domains of the protein, i.e. regions of the protein with known functions or homology to other proteins.
Explanation / Answer
A. Gene name - PKU1 , Phenylalanine hydroxylase
Gene ID - 5053
MIM - 612349
Chromosomal location - 12q23.2
B. Genomic size - 121,526bp
C. PAH variant 1 - 4134 bp
D. Exon number - 15
E . Protein size - 452 amino acids and 52 KDa