Label:
Chromosome 3: gene associated with alkaptonuria, Matt Ridley
Description:
Interviewee: Matt Ridley
DNAi Location:
Genome>tour>genome spots>Alkaptonuria
Location: chromosome 3
gene name:
HGD (homogentisate 1,2 dioxygenase)
Mutations in the HGD gene can cause the rare disorder alkaptonuria. The gene usually produces an enzyme that breaks down a substance called homogentisic acid. When this enzyme doesn't function properly, the homogentisic acid builds up and causes symptoms of alkaptonuria that include arthritis, black urine and reddish earwax.
Biological elements:
chromosome 3
Concepts precesses:
alkaptonuria, urine
Tools & methods :