Human ornithine aminotransferase (gyrate atrophy) ELISA Kit | OAT elisa kit
Human Ornithine aminotransferase, mitochondrial, OAT ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
Uniprot Description
OAT: Defects in OAT are the cause of hyperornithinemia with gyrate atrophy of choroid and retina (HOGA). HOGA is a slowly progressive blinding autosomal recessive disorder. Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.6.1.13; Mitochondrial; Amino Acid Metabolism - arginine and proline; Transferase
Chromosomal Location of Human Ortholog: 10q26
Cellular Component: mitochondrion; mitochondrial matrix
Molecular Function: ornithine-oxo-acid transaminase activity; pyridoxal phosphate binding
Biological Process: visual perception; amino acid biosynthetic process
Disease: Gyrate Atrophy Of Choroid And Retina
Research Articles on OAT
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Product Notes
The Human OAT oat (Catalog #AAA9329322) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9329322 ELISA Kit recognizes Human OAT. It is sometimes possible for the material contained within the vial of "ornithine aminotransferase (gyrate atrophy), 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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