PORPHOBILINOGEN DEAMINASE Meaning and
Definition
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Porphobilinogen deaminase, also known as hydroxymethylbilane synthase or uroporphyrinogen 1-synthase, is an enzyme involved in the heme biosynthesis pathway. It is encoded by the HMBS gene in humans and catalyzes the conversion of porphobilinogen into hydroxymethylbilane, a vital step in the synthesis of heme.
Porphobilinogen deaminase is a pyridoxal phosphate-dependent enzyme found in the cytoplasm of many tissues. It plays a crucial role in the formation of the tetrapyrrole molecule, which is an essential component of hemoglobin, myoglobin, and cytochromes. This enzyme is particularly important in the synthesis of heme, a critical component of hemoglobin that is responsible for oxygen transport in red blood cells.
Deficiencies in porphobilinogen deaminase can lead to a group of rare genetic disorders known as the porphyrias. Porphyrias are characterized by the accumulation of porphyrin precursors, leading to a wide range of symptoms including photodermatitis, abdominal pain, neurological disturbances, and urinary excretion of abnormal colored substances. The most common form of porphyria associated with porphobilinogen deaminase deficiency is acute intermittent porphyria (AIP).
In summary, porphobilinogen deaminase is an enzyme involved in the heme biosynthesis pathway, playing a crucial role in the conversion of porphobilinogen into hydroxymethylbilane. Deficiencies in this enzyme can result in porphyrias, a group of rare genetic disorders characterized by the accumulation of porphyrin precursors, leading to various symptoms and complications.
Common Misspellings for PORPHOBILINOGEN DEAMINASE
- oorphobilinogen deaminase
- lorphobilinogen deaminase
- -orphobilinogen deaminase
- 0orphobilinogen deaminase
- pirphobilinogen deaminase
- pkrphobilinogen deaminase
- plrphobilinogen deaminase
- pprphobilinogen deaminase
- p0rphobilinogen deaminase
- p9rphobilinogen deaminase
- poephobilinogen deaminase
- podphobilinogen deaminase
- pofphobilinogen deaminase
- potphobilinogen deaminase
- po5phobilinogen deaminase
- po4phobilinogen deaminase
- porohobilinogen deaminase
- porlhobilinogen deaminase
- por-hobilinogen deaminase
- por0hobilinogen deaminase
Etymology of PORPHOBILINOGEN DEAMINASE
The word "Porphobilinogen Deaminase" has its etymology derived from two main components:
1. Porphobilinogen: The term "porphobilinogen" comes from "porphyrin", which refers to a group of organic compounds involved in the production of heme, an essential molecule found in hemoglobin (which carries oxygen in the blood) and various enzymes. The "bilin" part of the word is derived from "bilirubin", a yellow pigment found in bile, which is produced from hemoglobin breakdown. Lastly, the "-gen" suffix signifies a precursor or substance that gives rise to something else. Therefore, "porphobilinogen" refers to a compound that serves as an intermediate in the biosynthesis of heme.
2. Deaminase: The suffix "-ase" in "deaminase" indicates an enzyme.
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