Definition of UROD

UROD: Uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme, a part of the hemoglobin molecule. UROD catalyses the decarboxylation of uroporphyrinogen III to coproporphyrinogen III by the conversion of four acetic acid groups to four methyl groups.

The gene encoding UROD is in chromosome region 1p34. Mutations in this gene resulting in reduced activity of the enzyme cause the most common form of porphyria -- porphyria cutanea tarda (PCT) -- and the recessively inherited form of hepatoerythropoietic porphyria (HEP).

See also: UROD deficiency.

Last Editorial Review: 10/9/2012

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