Human Aldehyde Dehydrogenase 18 Family, Member A1 ELISA Kit | ALDH18A1 elisa kit
Human Aldehyde Dehydrogenase 18 Family, Member A1 ELISA Kit
NCBI and Uniprot Product Information
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: Amino Acid Metabolism - arginine and proline; Oxidoreductase; Kinase, other; EC 1.2.1.41; EC 2.7.2.11; Mitochondrial
Chromosomal Location of Human Ortholog: 10q24.3
Cellular Component: mitochondrion; cytoplasm; mitochondrial inner membrane
Molecular Function: glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; ATP binding
Biological Process: citrulline biosynthetic process; glutamate metabolic process; proline biosynthetic process; ornithine biosynthetic process; amino acid biosynthetic process; phosphorylation
Disease: Cutis Laxa, Autosomal Recessive, Type Iiia
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Product Notes
The Human ALDH18A1 aldh18a1 (Catalog #AAA732829) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA732829 ELISA Kit recognizes Human ALDH18A1. It is sometimes possible for the material contained within the vial of "Aldehyde Dehydrogenase 18 Family, Member A1, ELISA Kit" 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
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