Human aldehyde dehydrogenase 4 family, member A1 ELISA Kit | ALDH4A1 elisa kit
Human Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial, ALDH4A1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
Uniprot Description
ALDH4A1: Irreversible conversion of delta-1-pyrroline-5- carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. Defects in ALDH4A1 are the cause of hyperprolinemia type 2 (HP-2). HP-2 is characterized by the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic manifestations, including seizures and mental retardation. Belongs to the aldehyde dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; Mitochondrial; Amino Acid Metabolism - arginine and proline; Oxidoreductase; EC 1.2.1.88
Chromosomal Location of Human Ortholog: 1p36
Cellular Component: mitochondrial matrix
Molecular Function: identical protein binding; aldehyde dehydrogenase (NAD) activity; electron carrier activity; 1-pyrroline-5-carboxylate dehydrogenase activity
Biological Process: proline catabolic process; 4-hydroxyproline catabolic process; proline biosynthetic process; glutamate biosynthetic process; proline catabolic process to glutamate; proline metabolic process
Disease: Hyperprolinemia, Type Ii
Research Articles on ALDH4A1
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Product Notes
The Human ALDH4A1 aldh4a1 (Catalog #AAA9330708) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9330708 ELISA Kit recognizes Human ALDH4A1. It is sometimes possible for the material contained within the vial of "aldehyde dehydrogenase 4 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
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