Enzyme* | Subcellular localization | Gene symbol¶ and chromosome location | Number of known disease variants (mutations) |
δ-Aminolevulinic acid synthase – Housekeeping form (ALAS1) | Mitochondria | ALAS1 3p31.2 | None |
δ-Aminolevulinic acid synthase – Erythroid-specific form (ALAS2) | Mitochondria | ALAS2 Xp11.2 | >25 in sex-linked sideroblastic anemia; 4 gain-of-function mutations in XLP |
ALA dehydratase (ALAD) | Cytosol | ALAD 9q32 | 14 in ALAD porphyria (8 known cases) |
PBG deaminase (PBGD)Δ | Cytosol | PBGD (also called HMBS) 11q23.2 | >300 in acute intermittent porphyria |
Uroporphyrinogen III synthase (UROS) | Cytosol | UROS 10q26.2 | >35 in congenital erythropoietic porphyria |
Uroporphyrinogen decarboxylase (UROD) | Cytosol | UROD 1p34.1 | >70 in porphyria cutanea tarda (type 2) and hepatoerythropoietic porphyria |
Coproporphyrinogen oxidase (CPOX) | Mitochondria | CPO 3q12.1 | >40 in hereditary coproporphyria |
Protoporphyrinogen oxidase (PPOX) | Mitochondria | PPOX 1q23.3 | >120 in variegate porphyria |
Ferrochelatase (FECH) | Mitochondria | FECH 18q21.31 | >90 in erythropoietic protoporphyria |
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