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Recombinant Human ALDH18A1 Protein, Myc/DDK-tagged, C13 and N15-labeled

Cat.No. : ALDH18A1-2882H
Product Overview : ALDH18A1 MS Standard C13 and N15-labeled recombinant protein (NP_002851) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.
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Description : This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.
Source : HEK293
Species : Human
Tag : Myc/DDK
Molecular Mass : 87.3 kDa
AA Sequence : MLSQVYRCGFQPFNQHLLPWVKCTT VFRSHCIQPSVIRHVRSWSNIPFIT VPLSRTHGKSFAHRSELKHAKRIVV KLGSAVVTRGDECGLALGRLASIVE QVSVLQNQGREMMLVTSGAVAFGKQ RLRHEILLSQSVRQALHSGQNQLKE MAIPVLEARACAAAGQSGLMALYEA MFTQYSICAAQILVTNLDFHDEQKR RNLNGTLHELLRMNIVPIVNTNDAV VPPAEPNSDLQGVNVISVKDNDSLA ARLAVEMKTDLLIVLSDVEGLFDSP PGSDDAKLIDIFYPGDQQSVTFGIK SRVGMGGMEAKVKAALWALQGGTSV VIANGTHPKVSGHVITDIVEGKKVG TFFSEVKPAGPTVEQQGEMARSGGR MLATLEPEQRAEIIHHLADLLTDQR DEILLANKKDLEEAEGRLAAPLLKR LSLSTSKLNSLAIGLRQIAASSQDS VGRVLRRTRIAKNLELEQVTVPIGV LLVIFESRPDCLPQVAALAIASGNG LLLKGGKEAAHSNRILHLLTQEALS IHGVKEAVQLVNTREEVEDLCRLDK MIDLIIPRGSSQLVRDIQKAAKGIP VMGHSEGICHMYVDSEASVDKVTRL VRDSKCEYPAACNALETLLIHRDLL RTPLFDQIIDMLRVEQVKIHAGPKF ASYLTFSPSEVKSLRTEYGDLELCI EVVDNVQDAIDHIHKYGSSHTDVIV TEDENTAEFFLQHVDSACVFWNAST RFSDGYRFGLGAEVGISTSRIHARG PVGLEGLLTTKWLLRGKDHVVSDFS EHGSLKYLHENLPIPQRNTNTRTRP LEQKLISEEDLAANDILDYKDDDDK V
Purity : > 80% as determined by SDS-PAGE and Coomassie blue staining
Stability : Stable for 3 months from receipt of products under proper storage and handling conditions.
Storage : Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
Concentration : 50 μg/mL as determined by BCA
Storage Buffer : 100 mM glycine, 25 mM Tris-HCl, pH 7.3.
Gene Name : ALDH18A1 aldehyde dehydrogenase 18 family member A1 [ Homo sapiens (human) ]
Official Symbol : ALDH18A1
Synonyms : ALDH18A1; aldehyde dehydrogenase 18 family, member A1; GSAS, PYCS, pyrroline 5 carboxylate synthetase (glutamate gamma semialdehyde synthetase); delta-1-pyrroline-5-carboxylate synthase; P5CS; delta1-pyrroline-5-carboxlate synthetase; aldehyde dehydrogenase family 18 member A1; delta-1-pyrroline-5-carboxylate synthetase; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase); GSAS; PYCS; ARCL3A; MGC117316;
Gene ID : 5832
mRNA Refseq : NM_002860
Protein Refseq : NP_002851
MIM : 138250
UniProt ID : P54886

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

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Q&As (7)

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What is the primary function of ALDH18A1? 03/12/2021

ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase, an enzyme involved in proline biosynthesis.

Is ALDH18A1 associated with amino acid metabolism? 10/25/2020

Yes, ALDH18A1 is associated with amino acid metabolism, specifically in the synthesis of the amino acid proline.

How does ALDH18A1 contribute to cellular homeostasis? 07/29/2020

ALDH18A1 contributes to cellular homeostasis by regulating the production of proline, an amino acid with various cellular functions.

Are there diseases associated with ALDH18A1 dysfunction? 01/17/2019

Mutations in ALDH18A1 can lead to a rare genetic disorder called type I hyperprolinemia, characterized by elevated levels of proline in the blood.

In what cellular processes does ALDH18A1 play a role? 07/22/2017

ALDH18A1 participates in the conversion of glutamate to pyrroline-5-carboxylate, a crucial step in proline biosynthesis.

Can ALDH18A1 be targeted for therapeutic interventions? 11/22/2016

Therapeutic interventions targeting ALDH18A1 may be explored for conditions related to proline metabolism, but this would require careful consideration due to the essential role of proline in various cellular processes.

What is the subcellular location of ALDH18A1? 06/25/2016

ALDH18A1 is typically located in the mitochondria, where it carries out the biosynthesis of proline.

Customer Reviews (3)

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01/15/2022

    Its speed in modulating signaling pathways allowed us to obtain results quickly, saving valuable time.

    03/14/2017

      The product's ability to accelerate research progress made it invaluable for time-critical projects.

      10/02/2016

        Time-sensitive assays were notably improved by the swift effects of the product.

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