ALAS2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ALAS2 |
| Official Name | 5'-aminolevulinate synthase 2 [Source:HGNC Symbol;Acc:HGNC:397] |
| Ensembl ID | ENSG00000158578 |
| Bio databases IDs | |
| Aliases | 5'-aminolevulinate synthase 2, sideroblastic/hypochromic anemia |
| Synonyms | 5-Aminolevulinate Synthase, 5'-aminolevulinate synthase 2, ALAS, ALAS-E, Amino Levulinate Synthase, Aminolevulinic acid synthase 2, aminolevulinic acid synthase 2, erythroid, ANH1, ASB, LOC100363476, SIDBA1, XLDPP, XLEPP, XLSA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ALAS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 8-amino-7-oxononanoate synthase
- 5-aminolevulinate synthase
- 5-aminolevulinate synthase presequence
- 5-aminolevulinic acid synthase
- binding protein
- AAT_I
- enzyme
- protein binding
- Aminotransferase class I and II
Pathways
Biological processes and signaling networks where the ALAS2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- rheumatoid arthritis
- renal cell cancer
- x-linked dominant erythropoietic protoporphyria
- late-onset hereditary sideroblastic anemia
- renal cell carcinoma
- X-linked sideroblastic anemia
- doxorubicin induced cardiotoxicity
- pyridoxine-refractory X-linked sideroblastic anemia
- anemia
- idiopathic inflammatory myopathy
regulates
- heme
- hemoglobin
- ALAS2
- Hbb-b1
- porphyrin
- iron ion
- heavy metal
role in cell
- differentiation
- accumulation in
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALAS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular iron ion homeostasis
- erythrocyte differentiation
- response to hypoxia
- heme biosynthetic process
- oxygen homeostasis
- erythrocyte development
- hemoglobin biosynthetic process
- protoporphyrinogen IX biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- pyridoxal phosphate binding
- protein binding
- 5-aminolevulinate synthase activity