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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 ]
X-linked sideroblastic anemia or "X-linked dominant erythropoietic protoporphyria", associated with ALAS2 (aminolevulinic acid synthase), has also been described.X-linked dominant erythropoietic protoporphyria (XDEPP) is caused by a gain of function mutation in the ALAS2 (5-aminolevulinate synthase) gene; that gene encodes the very first enzyme in the heme biosynthetic pathway.
X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity. [22] [23] In the autosomal recessive types, anyone who inherit a single gene may become a carrier. Generally they do not have symptoms but may pass the gene on to offspring. [24]
Human ferrochelatase is a homodimer composed of two 359 amino acid polypeptide chains. It has a total molecular weight of 85.07 kDa. [5] Each subunit is composed of five regions: a mitochondrial localization sequence, the N terminal domain, two folded domains, and a C terminal extension.
Porphyrin complexes of zinc have been known since the 1930s. [1] In 1974 ZPP was identified as a major non-heme porphyrin formed in red cells as the result of lead poisoning or iron deficiency., [8] It was already known at this time that non-heme protoporphyrin IX levels were elevated in these conditions, but prior investigators had used acidic extraction methods in their assays that converted ...
Afamelanotide, sold under the brand name Scenesse, is a medication used to prevent phototoxicity and to reduce pain from light exposure for people with erythropoietic protoporphyria. [ 1 ] [ 2 ] [ 4 ] It is a melanocortin 1 receptor (MC 1 receptor) agonist [ 1 ] and a synthetic peptide and analogue of α-melanocyte stimulating hormone . [ 1 ]
This page was last edited on 27 November 2020, at 02:14 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply.
19044 Ensembl ENSG00000143224 ENSMUSG00000062729 UniProt P50336 P51175 RefSeq (mRNA) NM_000309 NM_001122764 NM_001350128 NM_001350129 NM_001350130 NM_001350131 NM_001365398 NM_001365399 NM_001365400 NM_001365401 NM_008911 RefSeq (protein) NP_000300 NP_001116236 NP_001337057 NP_001337058 NP_001337059 NP_001337060 NP_032937 Location (UCSC) Chr 1: 161.17 – 161.18 Mb Chr 1: 171.1 – 171.11 Mb ...
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