The human gene for alkaptonuria (AKU) maps to chromosome 3q.

@article{Janocha1994TheHG,
  title={The human gene for alkaptonuria (AKU) maps to chromosome 3q.},
  author={S Janocha and Werner Wolz and Stefan Srsen and Klara Srsnova and Xavier Montagutelli and Jean Louis Gu{\'e}net and Tiemo Grimm and Wolfram Kress and Clemens R. Mueller},
  journal={Genomics},
  year={1994},
  volume={19 1},
  pages={5-8}
}
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in… CONTINUE READING
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