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The most well-known health issue involving porphobilinogen deaminase is acute intermittent porphyria, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme.
Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications. [2] [4] If the skin is affected, blisters or itching may occur with sunlight exposure. [2] Most types of porphyria are inherited from one or both of a person's parents and are due to a mutation in one of the genes that make heme. [2]
α-Hemolysin from S.aureus. Pore-forming proteins (PFTs, also known as pore-forming toxins) are usually produced by bacteria, and include a number of protein exotoxins but may also be produced by other organisms such as apple snails that produce perivitellin-2 [1] [2] or earthworms, who produce lysenin.
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias .
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
Porphyria cutanea tarda is the most common subtype of porphyria. [1] The disease is named because it is a porphyria that often presents with skin manifestations later in life. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs.
22275 Ensembl ENSG00000126088 ENSMUSG00000028684 UniProt P06132 P70697 RefSeq (mRNA) NM_000374 NM_009478 RefSeq (protein) NP_000365 NP_033504 Location (UCSC) Chr 1: 45.01 – 45.02 Mb Chr 4: 116.85 – 116.85 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Uroporphyrinogen III decarboxylase (uroporphyrinogen decarboxylase, or UROD) is an enzyme (EC 4.1.1.37) that in humans is encoded ...
Therapeutic treatments, like vaccinations and antibiotics, are used to supplement this immune response. [5] Specific antibiotics have been designed to travel through porins in order to inhibit cellular processes. [8] However, due to selective pressure, bacteria can develop resistance through mutations in the porin gene. [5]
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