Table 2.
Characteristics of The Heme Biosynthesis Genes
| Gene | Gene Symbol |
Chromosome Position |
Gene Length (kb) |
Exons | cDNA (bp) |
Encoded Protein Amino Acids |
|---|---|---|---|---|---|---|
| Aminolevulinic Acid Synthase 1 | ALAS1 | 3p21.1 | ~20 | 12 | ~2458 | 641 |
| Aminolevulinic Acid Synthase 2 | ALAS2 | Xp11.21 | ~26 | 12 | ~2044 | 588 |
| ALA-Dehydratase Deficiency | ALAD | 9q33.1 | ~19 | 12 | ~3200 | 331 |
| Hydroxymethylbilane Synthase | HMBS | 11q23.3 | ~13 | 15 | ~1526 | 362 |
| Uroporphyrinogen Synthase | UROS | 10q25.2-q26.3 | ~39 | 10 | ~1371 | 266 |
| Uroporphyrinogen Decarboxylase | UROD | 1p34.1 | ~8 | 10 | ~1408 | 368 |
| Coproporphyrinogen Oxidase | CPOX | 3q12 | ~18 | 7 | ~2728 | 455 |
| Protoporphyrinogen Oxidase | PPOX | 1q22 | ~9 | 13 | ~1716 | 478 |
| Ferrochelatase | FECH | 18q21.3 | ~46 | 11 | ~7277 | 424 |
Human Gene Mutation Database 2018.2: www.hgmd.org ∣ Aug 15, 2018
*
Genes listed in pathway sequence for ALAS to FECH