Probable peptide chain release factor C12orf65, mitochondrial; C12orf65; My030

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

>95%, Protein G purified

Liquid

Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-C12orf65 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).

ELISA (EIA)

12,923 Da

chromosome 12 open reading frame 65

probable peptide chain release factor C12orf65, mitochondrial

Probable peptide chain release factor C12orf65, mitochondrial

CL065_HUMAN

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]

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: mitochondrial large ribosomal subunit

Molecular Function: aminoacyl-tRNA hydrolase activity; ribosome binding; translation release factor activity, codon nonspecific; translation release factor activity, codon specific

Disease: Combined Oxidative Phosphorylation Deficiency 7

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