Human chromosome 2 open reading frame 64 ELISA Kit | C2orf64 elisa kit
Human Protein C2orf64, C2orf64 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
Uniprot Description
COA5: Involved in an early step of the mitochondrial complex IV assembly process. Defects in COA5 are the cause of mitochondrial complex IV deficiency (MT-C4D). A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. Belongs to the PET191 family.
Protein type: Mitochondrial
Chromosomal Location of Human Ortholog: 2q11.2
Cellular Component: mitochondrion
Disease: Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 3; Mitochondrial Complex Iv Deficiency
Research Articles on C2orf64
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Product Notes
The Human C2orf64 coa5 (Catalog #AAA9340734) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9340734 ELISA Kit recognizes Human C2orf64. It is sometimes possible for the material contained within the vial of "chromosome 2 open reading frame 64, 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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