AAA37207.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
5-aminolevulinic acid synthase (EC 2.3.1.37), partial
NCBI Official Synonym Full Names
aminolevulinic acid synthase 2, erythroid
NCBI Protein Information
5-aminolevulinate synthase, erythroid-specific, mitochondrial; delta-ALA synthase 2; erythroid-specific ALAS; 5-aminolevulinic acid synthase 2; delta-aminolevulinate synthase 2
UniProt Protein Name
5-aminolevulinate synthase, erythroid-specific, mitochondrial
UniProt Synonym Protein Names
5-aminolevulinic acid synthase 2; Delta-ALA synthase 2; Delta-aminolevulinate synthase 2
UniProt Synonym Gene Names
UniProt Entry Name
HEM0_MOUSE
UniProt Comments for Alas2
ALAS2: Defects in ALAS2 are a cause of anemia sideroblastic X- linked (XLSA). Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. XLSA shows a variable hematologic response to pharmacologic doses of pyridoxine. Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT). Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is a form of porphyria characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Amino Acid Metabolism - glycine, serine and threonine; EC 2.3.1.37; Mitochondrial; Transferase
Cellular Component: mitochondrion; mitochondrial matrix; cell; mitochondrial inner membrane
Molecular Function: transferase activity; 5-aminolevulinate synthase activity; glycine binding; transferase activity, transferring acyl groups; coenzyme binding; catalytic activity; pyridoxal phosphate binding
Biological Process: hemoglobin biosynthetic process; cellular iron ion homeostasis; metabolic process; porphyrin metabolic process; response to hypoxia; erythrocyte differentiation; biosynthetic process; tetrapyrrole biosynthetic process; heme biosynthetic process
Research Articles on Alas2
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Pathways associated with anti-Alas2 antibody
Diseases associated with anti-Alas2 antibody
Organs/Tissues associated with anti-Alas2 antibody
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