Human Probable methyltransferase ELISA Kit | C20orf7 elisa kit

Human Probable methyltransferase, mitochondrial (C20orf7) ELISA Kit

Cat. Num. AAA282732

• Gene Names: NDUFAF5; C20orf7; dJ842G6.1; bA526K24.2
• Reactivity: Human
• Synonyms: Probable methyltransferase; Human Probable methyltransferase; mitochondrial (C20orf7) ELISA Kit; C20orf7 elisa kit

• Reactivity: Human
• Specificity: This assay has high sensitivity and excellent specificity for detection of Human C20orf7. No significant cross-reactivity or interference between Human C20orf7 and analogues was observed.
• Sequence Length: 328

• Samples: Serum, Plasma, Other biological fluids
• Assay Type: Sandwich
• Sample Volume: 1-200 uL
• Detection Wavelength: 450 nm
• Preparation and Storage: Store at 2-8 degree C.

Related Product Information for C20orf7 elisa kit

Principle of the Assay: This assay employs a two-site sandwich ELISA to quantitate C20orf7 in samples. An antibody specific for C20orf7 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and anyC20orf7 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for C20orf7 is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of C20orf7 bound in the initial step. The color development is stopped and the intensity of the color is measured.

NCBI and Uniprot Product Information

• NCBI GI #: 86792933
• NCBI GeneID: 79133
• NCBI Accession #: NP_001034464.1
• NCBI GenBank Nucleotide #: NM_001039375.2
• UniProt Accession #: Q5TEU4; Q6GPH3; Q9H6F4; A8K166
• Molecular Weight: 36,076 Da
• NCBI Official Full Name: arginine-hydroxylase NDUFAF5, mitochondrial isoform 2
• NCBI Official Synonym Full Names: NADH:ubiquinone oxidoreductase complex assembly factor 5
• NCBI Official Symbol: NDUFAF5
• NCBI Official Synonym Symbols: C20orf7; dJ842G6.1; bA526K24.2
• NCBI Protein Information: arginine-hydroxylase NDUFAF5, mitochondrial; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
• UniProt Protein Name: Arginine-hydroxylase NDUFAF5, mitochondrial
• Protein Family: Probable methyltransferase
• UniProt Gene Name: NDUFAF5

NCBI Description

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Uniprot Description

NDUFAF5: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity. Defects in NDUFAF5 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Defects in NDUFAF5 are a cause of Leigh syndrome (LS). An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Belongs to the methyltransferase superfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.1.1.-; Methyltransferase; Mitochondrial

Chromosomal Location of Human Ortholog: 20p12.1

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: methyltransferase activity; oxidoreductase activity; protein binding

Biological Process: methylation; mitochondrial respiratory chain complex I assembly; peptidyl-arginine hydroxylation

Disease: Mitochondrial Complex I Deficiency