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Sequence of enzymes in the heme biosynthetic pathway, subcellular localizations, gene symbols, and chromosomal locations

Sequence of enzymes in the heme biosynthetic pathway, subcellular localizations, gene symbols, and chromosomal locations
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
Refer to UpToDate for information on diagnostic testing.
δ: delta; XLP: X-linked protoporphyria; ALA: delta-aminolevulinic acid; PBG: porphobilinogen.
* Standard abbreviations in parentheses.
¶ Gene symbols in italics, by convention.
Δ Also known as hydroxymethylbilane synthase (HMBS), and formerly as uroporphyrinogen I synthase.
Karl Anderson, MD, FACP.
Graphic 54358 Version 8.0