ELISA/assay

Human Otoferlin, OTOF ELISA Kit

MBS9343182

48-Strip-Wells

470 USD

ELISA Kit

Human Otoferlin, OTOF ELISA Kit

[otoferlin]

[Human Otoferlin (OTOF) ELISA kit; AUNB1; DFNB6; DFNB9; FER1L2; NSRD9; OTTHUMP00000122455; otoferlin]

[otoferlin isoform e; Otoferlin; otoferlin; fer-1-like protein 2; fer-1-like family member 2; otoferlin; Fer-1-like protein 2]

[OTOF]

[OTOF; OTOF; AUNB1; DFNB6; DFNB9; NSRD9; FER1L2; FER1L2]

OTOF_HUMAN

Human

No significant cross-reactivity or interference between this analyte and analogues is observed.

Store all reagents at 2-8 degree C

Samples: Human Body Fluids And Tissue Homogenates. Assay Type: Quantitative Sandwich. Detection Range: 0.625ng/ml-20ng/ml. Sensitivity: 0.1ng/ml.

Intra-assay Precision: Intra-assay CV (%)is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100]. All CV% should be compared by concentration, not compared by OD values.

Background/Introduction: This Quantitative Sandwich ELISA kit is for lab reagent/research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determine the level of OT/BGP (hereafter termed "analyte") in undiluted original Human body fluids and tissue homogenates. This kit is NOT suitable for assaying non-biological sources of substances.

566559996

NP_001274418.1

NM_001287489.1

Q9HC10

226,753 Da

Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OTOF: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes. Defects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9). DFNB9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in OTOF are a cause of auditory neuropathy, autosomal recessive, type 1 (AUNB1). A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive. Belongs to the ferlin family. 5 isoforms of the human protein are produced by alternative splicing. Protein type: Vesicle; Membrane protein, integral. Chromosomal Location of Human Ortholog: 2p23.1. Cellular Component: endoplasmic reticulum membrane; synaptic vesicle membrane; basolateral plasma membrane; integral to membrane; cell junction; cytosol. Molecular Function: calcium ion binding. Biological Process: synaptic vesicle exocytosis; sensory perception of sound. Disease: Deafness, Autosomal Recessive 9

48-Strip-Wells

470 USD

96-Strip-Wells

680

5x96-Strip-Wells

3100

10x96-Strip-Wells

6095