Where is ALAS1 found?
Two genes, located in two different chromosomes in humans, encode the two ALAS forms of the enzyme (or isozymes): ALAS1 and ALAS2. The gene encoding ALAS1 is expressed in every cell, whereas that for ALAS2 is specifically expressed in erythroid cells.
What is ALAS2?
The ALAS2 gene provides instructions for making an enzyme called 5′-aminolevulinate synthase 2 or erythroid ALA-synthase. This version of the enzyme is found only in developing red blood cells called erythroblasts. ALA-synthase plays an important role in the production of heme.
What is hem in hemoglobin?
Heme, or haem, is a precursor to hemoglobin, which is necessary to bind oxygen in the bloodstream. Heme is biosynthesized in both the bone marrow and the liver.
What does Sideroblastic mean?
Sideroblasts (sidero- + -blast) are nucleated erythroblasts (precursors to mature red blood cells) with granules of iron accumulated in the mitochondria surrounding the nucleus. Normally, sideroblasts are present in the bone marrow, and enter the circulation after maturing into a normal erythrocyte.
What is Hem medical term?
Hem- is a combining form used like a prefix meaning “blood.” It is used in many medical terms, especially in pathology. Hem- comes from the Greek haîma, meaning “blood.”
What is heme in biochemistry?
A heme is an organic, ring-shaped molecule. Due to its special structure, a heme is capable of holding, or “hosting” an iron molecule. A heme is made from 4 pyrroles, which are small pentagon-shaped molecules made from 4 carbons and 1 nitrogen. Four pyrroles together form a tetrapyrrole.
Can sideroblastic anemia be cured?
Treatment of sideroblastic anemia may include the following: Removal of toxic agents. Administration of pyridoxine, thiamine, or folic acid. Transfusion (along with antidotes if iron overload develops from transfusion)
Does sideroblastic anemia go away?
Acquired forms of sideroblastic anemia are more common and are often reversible. Although doctors don’t know the exact cause of acquired SA in most people, you can get the disease by using certain prescription drugs (mainly for tuberculosis) and by drinking alcohol.
What is the ALAS1 gene?
ALAS1 (5′-Aminolevulinate Synthase 1) is a Protein Coding gene. Diseases associated with ALAS1 include Acute Porphyria and Porphyria, Acute Intermittent .
What diseases are associated with the ALAS2 gene?
Diseases associated with ALAS2 include Anemia, Sideroblastic, 1 and Protoporphyria, Erythropoietic, X-Linked . Among its related pathways are Metabolism of porphyrins and Metabolism . Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycine binding . An important paralog of this gene is ALAS1.
What is the function of ALAS1 and ALAS2?
There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2. Mice lacking this gene exhibit embryonic embryonic lethality, indicating that ALAS is essential for early embryogenesis.
What is ALAS1 (5′-aminolevulinate synthase 1)?
Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] ALAS1 (5′-Aminolevulinate Synthase 1) is a Protein Coding gene. Diseases associated with ALAS1 include Acute Porphyria and Porphyria, Acute Intermittent .