ALAS2
Encyclopedia
Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein
that in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase
.
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.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase
Aminolevulinic acid synthase
ALA synthase catalyzes the synthesis of D-Aminolevulinic acid the first common precursor in the biosynthesis of all tetrapyrroles. The enzyme is expressed in all non-plant eukaryotes and the α-class of proteobacteria. Other organisms produce ALA through a three enzyme pathway known as the Shemin...
.
The product of this gene specifies an erythroid-specific mitochondrially
Mitochondrion
In cell biology, a mitochondrion is a membrane-enclosed organelle found in most eukaryotic cells. These organelles range from 0.5 to 1.0 micrometers in diameter...
located enzyme. The encoded protein catalyzes the first step in the heme
Heme
A heme or haem is a prosthetic group that consists of an iron atom contained in the center of a large heterocyclic organic ring called a porphyrin. Not all porphyrins contain iron, but a substantial fraction of porphyrin-containing metalloproteins have heme as their prosthetic group; these are...
biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia
Sideroblastic anemia
Sideroblastic anemia or sideroachrestic anemia is a disease in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells . It may be caused either by a genetic disorder or indirectly as part of myelodysplastic syndrome, which can evolve into hematological malignancies...
. Alternatively spliced
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...
transcript variants encoding different isoforms
Protein isoform
A protein isoform is any of several different forms of the same protein. Different forms of a protein may be produced from related genes, or may arise from the same gene by alternative splicing. A large number of isoforms are caused by single-nucleotide polymorphisms or SNPs, small genetic...
have been identified.