Human chromosome 12 open reading frame 65 ELISA Kit | C12orf65 elisa kit
Human Probable peptide chain release factor C12orf65, mitochondrial, C12orf65 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Uniprot Description
C12orf65: May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. Defects in C12orf65 are the cause of combined oxidative phosphorylation deficiency type 7 (COXPD7). A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. Belongs to the prokaryotic/mitochondrial release factor family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Translation; RNA-binding
Chromosomal Location of Human Ortholog: 12q24.31
Cellular Component: mitochondrion
Molecular Function: translation release factor activity
Biological Process: translational termination
Disease: Combined Oxidative Phosphorylation Deficiency 7
Research Articles on C12orf65
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Product Notes
The Human C12orf65 c12orf65 (Catalog #AAA9336077) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9336077 ELISA Kit recognizes Human C12orf65. It is sometimes possible for the material contained within the vial of "chromosome 12 open reading frame 65, 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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