Rabbit Anti-NDUFAF5 antibody

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C20orf7; chromosome 20 open reading frame 7; CT007_HUMAN; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; NDUFAF5; Probable methyltransferase C20orf7, mitochondrial.

Cat:

SL15113R

Species Reactivity：

(predicted: Human,Mouse,Rat,Dog,Pig,Cow,Horse,Rabbit,)

Immunogen：

KLH conjugated synthetic peptide derived from human C20orf7:261-345/345

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

WB=1:500-2000ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf7 gene product has been provisionally designated C20orf7 pending further characterization.

Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.

Subcellular Location:
Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.

DISEASE:
Defects in NDUFAF5 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. 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) [MIM:256000]. 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.

Similarity:
Belongs to the methyltransferase superfamily.

SWISS:
Q5TEU4

Gene ID:
79133

Database links:

Entrez Gene: 79133 Human

SwissProt: Q5TEU4 human

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