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. |
- Specification
- Gene Information
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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 |
Products Types
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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)
Ask a questionALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase, an enzyme involved in proline biosynthesis.
Yes, ALDH18A1 is associated with amino acid metabolism, specifically in the synthesis of the amino acid proline.
ALDH18A1 contributes to cellular homeostasis by regulating the production of proline, an amino acid with various cellular functions.
Mutations in ALDH18A1 can lead to a rare genetic disorder called type I hyperprolinemia, characterized by elevated levels of proline in the blood.
ALDH18A1 participates in the conversion of glutamate to pyrroline-5-carboxylate, a crucial step in proline biosynthesis.
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.
ALDH18A1 is typically located in the mitochondria, where it carries out the biosynthesis of proline.
Customer Reviews (3)
Write a reviewIts speed in modulating signaling pathways allowed us to obtain results quickly, saving valuable time.
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