Product Name
ALAS2, cDNA Clone
Full Product Name
ALAS2 cDNA Clone
Product Gene Name
ALAS2 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atggtgactg cagccatgct gctacagtgc tgcccagtgc ttgcccgggg ccccacaagc ctcctaggca aggtggttaa gactcaccag ttcctgtttg gtattggacg ctgtcccatc ctggctaccc aaggaccaaa ctgttctcaa atccacctta aggcaacaaa ggctggagga gattctccat cttgggcgaa gggccactgt cccttcatgc tgtcggaact ccaggatggg aagagcaaga ttgtgcagaa ggcagcccca gaagtccagg aagatgtgaa ggctttcaag acaggaaact atgtcttcag ttatgaccag tttttcaggg acaagatcat ggagaagaaa caggatcaca cctaccgtgt gttcaagact gtgaaccgct gggctgatgc atatcccttt gcccaacatt tctctgaggc atctgtggcc tcaaaggatg tgtccgtctg gtgtagtaat gattacctgg gcatgagccg acaccctcag gtcttgcaag ccacacagga gaccctgcag cgtcatggtg ttggagctgg tggcacccgc aacatctcag gcaccagtaa gtttcatgtg gagcttgagc aggagctggc tgagctgcac cagaaggact cagccctgct cttctcctcc tgctttgttg ccaatgactc tactctcttc accttggcca agatcctgcc agggtgcgag atttactcag acgcaggcaa ccatgcttcc atgatccaag gtatccgtaa cagtggagca gccaagtttg tcttcaggca caatgaccct gaccacctaa agaaacttct agagaagtct aaccctaaga tacccaaaat tgtggccttt gagactgtcc actccatgga tggtgccatc tgtcccctcg aggagttgtg tgatgtgtcc caccagtatg gggccctgac cttcgtggat gaggtccatg ctgtaggact gtatgggtcc cggggcgctg ggattgggga gcgtgatgga attatgcata agattgacat catctctgga actcttggca aggcctttgg ctgtgtgggc ggctacattg ccagcacccg tgacttggtg gacatggtgc gctcctatgc tgcaggcttc atctttacca cttctctgcc ccccatggtg ctctctggag ctctagaatc tgtgcggctg ctcaagggag aggagggcca agccctgagg cgagcccacc agcgcaatgt caagcacatg cgccagctac tcatggacag gggccttcct gtcatcccct gccccagcca catcatcccc atccgggtgg gcaatgcagc actcaacagc aagctctgtg atctcctgct ctccaagcat ggcatctatg tgcaggccat caactaccca actgtccccc ggggtgaaga gctcctgcgc ttggcaccct ccccccacca cagccctcag atgatggaag attttgtgga gaagctgctg ctggcttgga ctgcggtggg gctgcccctc caggatgtgt ctgtggctgc ctgcaatttc tgtcgccgtc ctgtacactt tgagctcatg agtgagtggg aacgttccta cttcgggaac atggggcccc agtatgtcac cacctatgcc tga
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of ALAS2 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for ALAS2. It may not necessarily be applicable to this product.
NCBI Accession #
BC030230
[Other Products]
UniProt Secondary Accession #
Q13735; Q5JZF5; Q8N6H3; A8K3F0; A8K6C4[Other Products]
UniProt Related Accession #
P22557[Other Products]
Molecular Weight
63,487 Da
NCBI Official Full Name
Homo sapiens aminolevulinate, delta-, synthase 2, mRNA
NCBI Official Synonym Full Names
5'-aminolevulinate synthase 2
NCBI Official Symbol
ALAS2 [Similar Products]
NCBI Official Synonym Symbols
ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1
[Similar Products]
NCBI Protein Information
5-aminolevulinate synthase, erythroid-specific, mitochondrial
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
Protein Family
Alanine--tRNA ligase
UniProt Gene Name
ALAS2 [Similar Products]
UniProt Synonym Gene Names
ALASE; ASB; ALAS-E [Similar Products]
UniProt Entry Name
HEM0_HUMAN
NCBI Summary for ALAS2
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]
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: Transferase; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Amino Acid Metabolism - glycine, serine and threonine; Mitochondrial; EC 2.3.1.37
Chromosomal Location of Human Ortholog: Xp11.21
Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion
Molecular Function: 5-aminolevulinate synthase activity; coenzyme binding; glycine binding; protein binding
Biological Process: cellular iron ion homeostasis; erythrocyte differentiation; heme biosynthetic process; hemoglobin biosynthetic process; response to hypoxia
Disease: Anemia, Sideroblastic, X-linked; Protoporphyria, Erythropoietic, X-linked
Research Articles on ALAS2
1. data indicate that the X-linked protoporphyria variants possess enhanced ALAS activity and ALA dissociation rates, as well as distinct structural properties from those of wild-type hALAS
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Disclaimer
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