optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), ELIS

Mouse Optic atrophy 3 protein (OPA3) ELISA kit; FLJ22187; FLJ25932; MGA3; MGC75494; Optic atrophy 3 (Iraqi-Jewish optic atrophy plus) ; optic atrophy 3 protein; optic atrophy 3 (autosomal recessive; with chorea and spastic paraplegia)

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

Store all reagents at 2-8 degree C

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Small volumes of OPA3 elisa kit 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.

MBS9326284 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing OPA3. The ELISA analytical biochemical technique of the MBS9326284 kit is based on OPA3 antibody-OPA3 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect OPA3 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, OPA3. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

20,110 Da

optic atrophy 3

optic atrophy 3 protein homolog

Optic atrophy 3 protein homolog

OPA3_MOUSE

OPA3: May play some role in mitochondrial processes. Defects in OPA3 are the cause of 3-methylglutaconic aciduria type 3 (MGA3); also known as optic atrophy plus syndrome or Costeff optic atrophy syndrome. MGA3 is an autosomal recessive neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3- methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3- hydroxyisovaleric acid levels. Defects in OPA3 are the cause of optic atrophy type 3 (OPA3); also known as autosomal dominant optic atrophy and cataract (ADOAC) or cataract, optic atrophy and neurologic disorder. Hereditary optic atrophy form a heterogeneous group of disorders. The autosomal dominant forms are characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits and centrocecal scotoma of variable density. Belongs to the OPA3 family. 2 isoforms of the human protein are produced by alternative splicing.

Cellular Component: mitochondrion

Biological Process: regulation of lipid metabolic process; neuromuscular process; growth

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