ALDH18A1 blocking peptide
ALDH18A1 Immunizing Peptide
NCBI and Uniprot Product Information
NCBI 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. [provided by RefSeq, Jul 2008]
Uniprot Description
ALDH18A1: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A). A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 1.2.1.41; Mitochondrial; EC 2.7.2.11; Amino Acid Metabolism - arginine and proline; Kinase, other; Oxidoreductase
Chromosomal Location of Human Ortholog: 10q24.3
Cellular Component: cytoplasm; mitochondrial inner membrane; mitochondrion
Molecular Function: ATP binding; delta1-pyrroline-5-carboxylate synthetase activity; glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; protein binding
Biological Process: amino acid biosynthetic process; citrulline biosynthetic process; glutamate metabolic process; ornithine biosynthetic process; phosphorylation; proline biosynthetic process
Disease: Cutis Laxa, Autosomal Dominant 3; Cutis Laxa, Autosomal Recessive, Type Iiia; Spastic Paraplegia 9a, Autosomal Dominant; Spastic Paraplegia 9b, Autosomal Recessive
Research Articles on ALDH18A1
Similar Products
Product Notes
The ALDH18A1 aldh18a1 (Catalog #AAA427422) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. The ALDH18A1 Immunizing Peptide reacts with Human, Mouse, Rat, Dog, Cow, Pig and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: C-SEHGSLKY LH. It is sometimes possible for the material contained within the vial of "ALDH18A1, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
