ALAD
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | aminolevulinate dehydratase |
| EntrezGene | 210 |
| PheGenI | 210 |
| VariationViewer | 210 |
| ClinVar | ALAD |
| GeneCards | ALAD |
| dbSNP | 210 |
| Diseases | ALAD |
| SADR | 210 |
| HugeNav | 210 |
| wikipedia | ALAD |
| ALAD | |
| gopubmed | ALAD |
| EVS | ALAD |
| HEFalMp | ALAD |
| MyGene2 | ALAD |
| 23andMe | ALAD |
| UniProt | P13716 |
| Ensembl | ENSG00000148218 |
| OMIM | 125270 |
| # SNPs | 11 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs121912980 | 3 | 113,390,798 | |
| rs121912981 | 3 | 113,389,085 | |
| rs121912982 | 3 | 113,389,521 | |
| rs121912983 | 3 | 113,389,088 | |
| rs121912984 | 0 | 113,393,524 | |
| rs1800435 | 3 | 113,391,611 | |
| rs1805313 | 0 | 113,388,911 | |
| rs2761016 | 0 | 113,391,072 | |
| rs749066913 | 3 | 113,391,634 | |
| rs818684 | 0 | 113,397,143 | |
| rs818689 | 0 | 113,400,480 |
ALAD codes for aminolevulinate dehydratase, a step in making heme [1]. Defects in this gene cause several recessively inherited conditions, including ALAD deficiency porphyria and acute hepatic porphyria, with at least 10 causative mutations known. It also affects response to lead exposure.
In 2019, the U.S. Food and Drug Administration granted approval to Givlaari (givosiran) for the treatment of adult patients with acute hepatic porphyria.[2]
