Alas2 Gene Summary [Mouse]

Enables 5-aminolevulinate synthase activity. Involved in erythrocyte differentiation; heme biosynthetic process; and hemoglobin biosynthetic process. Acts upstream of or within intracellular iron ion homeostasis. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; 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, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Alas2
Official Name
aminolevulinic acid synthase 2, erythroid [Source:MGI Symbol;Acc:MGI:87990]
Ensembl ID
ENSMUSG00000025270
Bio databases IDs NCBI: 11656 Ensembl: ENSMUSG00000025270
Aliases aminolevulinic acid synthase 2, erythroid
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
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse 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 mouse 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.
binds
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
regulated by
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 mouse 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.