Table 3.
List of genes causative of porphyria. AD, autosomal dominant; AR, autosomal recessive; XL, X-linked inheritance; ERY erythroid-specific; UBI ubiquitous.
| Porphyria | OMIM | Inheritance | Gene | Chr. | kb | RefSeq | Exons | Isoforms |
|---|---|---|---|---|---|---|---|---|
| XLP | 300752 | XL | ALAS2 | Xp11.21 | 22 | NM_000032.4 | 11 | Ery |
| ADP | 612740 | AR | ALAD | 9q32 | 15 | NM_000031.5 | 13 | Ubi/Ery |
| AIP | 176000 | AD | HMBS | 11q23.3 | 9 | NM_000190.3 | 15 | Ubi/Ery |
| CEP | 263700 | AR | UROS | 10q26.2 | 38 | NM_000375.2 | 10 | Ubi/Ery |
| CEP/XLTT | 314050 | XL | GATA1 | Xp11.23 | 8 | NM_002049.4 | 6 | Ubi |
| PCT/HEP | 176100 | AD/AR | UROD | 1p34.1 | 3 | NM_000374.4 | 10 | Ubi |
| HCP | 121300 | AD | CPOX | 3q11.2 | 14 | NM_000097.5 | 7 | Ubi |
| VP | 176200 | AD | PPOX | 1q23.3 | 5 | NM_000309.3 | 13 | Ubi |
| EPP | 177000 | AR | FECH | 18q21.31 | 42 | NM_000140.3 | 11 | Ubi |
| EPP2 | 618015 | AD | CLPX | 15q22.31 | 37 | NM_006660.5 | 14 | Ubi |