Alas2 - aminolevulinic acid synthase 2, erythroid Gene
Also Known as ALAS; ALASE; ALAS-E; Alas-2
Species: Mus musculus
Summary
Enables 5-aminolevulinate synthase activity. Involved in erythrocyte differentiation; heme biosynthetic process; and Hemoglobin biosynthetic process. Acts upstream of or within cellular iron ion homeostasis. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Orthologous to human ALAS2 (5'-aminolevulinate synthase 2). [provided by Alliance of Genome Resources, Apr 2022]
Alas2 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001102446.2 | NP_001095916.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform b |
| NM_001409472.1 | NP_001396401.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform c |
| NM_001409473.1 | NP_001396402.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform d |
| NM_001409474.1 | NP_001396403.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform e |
| NM_001409475.1 | NP_001396404.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform f |
| NM_001409476.1 | NP_001396405.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform g |
| NM_001409477.1 | NP_001396406.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform h |
| NM_009653.4 | NP_033783.1 | 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables 5-aminolevulinate synthase activity |
IDA
IDA: Inferred from direct assay
|
3557128 | MGI |
| enables 5-aminolevulinate synthase activity |
IMP
IMP: Inferred from mutant phenotype
|
7620186 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in erythrocyte differentiation |
IMP
IMP: Inferred from mutant phenotype
|
9446639 | MGI |
| involved in heme biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
9446639 | MGI |
| involved in hemoglobin biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
9446639 | MGI |
| acts upstream of or within intracellular iron ion homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
10562540 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
3557128 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
5-aminolevulinate synthase, erythroid-specific, mitochondrial |
|
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