ALAS2 Chromosome X
5'-aminolevulinate synthase 2
Upload your DNA to see your personal genotypes for variants in ALAS2.
What This Gene Does
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated Conditions (10)
X-linked sideroblastic anemia 1
Inborn genetic diseases
Sideroblastic anemia 1
late-onset
X-linked erythropoietic protoporphyria
Developmental and epileptic encephalopathy
36
ALAS2-related disorder
Pancreatic adenocarcinoma
See cases
Key Variants
RS1057515971
Conflicting classifications of pathogenicity
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
Health Risk
RS1057522963
Conflicting classifications of pathogenicity
Health Risk
RS1241455019
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137852304
Conflicting classifications of pathogenicity
Sideroblastic anemia 1, late-onset, X-linked sideroblastic anemia 1
Health Risk
RS137978657
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139496244
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139596860
Conflicting classifications of pathogenicity
X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia 1, Developmental and epileptic encephalopathy
Health Risk
RS143328343
Conflicting classifications of pathogenicity
X-linked sideroblastic anemia 1, Inborn genetic diseases, X-linked sideroblastic anemia 1
Health Risk
RS143995220
Conflicting classifications of pathogenicity
X-linked sideroblastic anemia 1, Inborn genetic diseases, X-linked sideroblastic anemia 1
Health Risk
RS149747514
Conflicting classifications of pathogenicity
ALAS2-related disorder, ALAS2-related disorder
Health Risk
RS150055592
Conflicting classifications of pathogenicity
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
Health Risk
RS1602244633
Conflicting classifications of pathogenicity
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057515971 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS1057522963 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1241455019 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS137852304 | Health Risk | Conflicting classifications of pathogenicity | Sideroblastic anemia 1, late-onset, X-linked sideroblastic anemia 1 |
| RS137978657 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139496244 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139596860 | Health Risk | Conflicting classifications of pathogenicity | X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia 1, Developmental and epileptic encephalopathy |
| RS143328343 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, Inborn genetic diseases, X-linked sideroblastic anemia 1 |
| RS143995220 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, Inborn genetic diseases, X-linked sideroblastic anemia 1 |
| RS149747514 | Health Risk | Conflicting classifications of pathogenicity | ALAS2-related disorder, ALAS2-related disorder |
| RS150055592 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS1602244633 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS185504937 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS199826743 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia 1 |
| RS201062903 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia 1 |
| RS201875716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ALAS2-related disorder, Inborn genetic diseases |
| RS2146722839 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS371716491 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372076630 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372675935 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, ALAS2-related disorder, Inborn genetic diseases |
| RS753156183 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, Inborn genetic diseases, X-linked erythropoietic protoporphyria |
| RS754772558 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS756790340 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, Inborn genetic diseases, X-linked sideroblastic anemia 1 |
| RS758290167 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758646032 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS764463609 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765511300 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765603040 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS772482624 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779247451 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780642606 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS863223904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS866599436 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS977637650 | Health Risk | Conflicting classifications of pathogenicity | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS1057522832 | Health Risk | Likely pathogenic | — |
| RS145704441 | Health Risk | Likely pathogenic | — |
| RS1935671225 | Health Risk | Likely pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS2146715075 | Health Risk | Likely pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS2146722676 | Health Risk | Likely pathogenic | — |
| RS2519570856 | Health Risk | Likely pathogenic | — |
| RS2519576126 | Health Risk | Likely pathogenic | — |
| RS2519592343 | Health Risk | Likely pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS2519597816 | Health Risk | Likely pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS863223902 | Health Risk | Likely pathogenic | — |
| RS863223903 | Health Risk | Likely pathogenic | — |
| RS137852299 | Health Risk | Pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852300 | Health Risk | Pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852301 | Health Risk | Pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852302 | Health Risk | Pathogenic | X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS137852303 | Health Risk | Pathogenic | Sideroblastic anemia 1, late-onset, Sideroblastic anemia 1 |