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Anti-WFS1 Antibody

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简单介绍

Anti-WFS1 Antibody


Anti-WFS1 Antibody  的详细介绍
Name: Anti-WFS1 Antibody
See all WFS1 primary antibodies
Description: Rabbit polyclonal antibody to WFS1
Specificity: WFS1 pAb detects endogenous levels of WFS1 protein.
Applications: WB
Reactivity: Human, Mouse, Rat
Immunogen: A synthetic peptide corresponding to residues in Human WFS1.
Host: Rabbit
Clonality: Polyclonal
Conjugate: Unconjugated
Molecular Weight: ~ 100 kDa
Purity: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Product Form: 1mg/ml in PBS with 0.1% Sodium Azide, 50% Glycerol.
Function: Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.
Tissue Specificity: Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.
Involvement in Disease: Wolfram syndrome 1: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.

Deafness, autosomal dominant, 6: A form of non-syndromic 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. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness.

Wolfram-like syndrome autosomal dominant: A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges.

Cataract 41: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive.
Cellular Location: Endoplasmic reticulum membrane.
Database Links:
  • Entrez Gene: 7466 Human
  • Entrez Gene: 22393 Mouse
  • Entrez Gene: 83725 Rat
  • Omim: 606201 Human
  • SwissProt: O76024 Human
  • SwissProt: P56695 Mouse
  • Unigene: 518602 Human
  • Unigene: 20916 Mouse
  • Unigene: 229139 Rat
    		•
    Synonyms:
  • CTRCT41 Antibody
  • DFNA14 Antibody
  • DFNA38 Antibody
  • DFNA6 Antibody
  • DIDMOAD Antibody
  • WFRS Antibody
  • WFS Antibody
  • WFS1 Antibody
  • WFSL Antibody
  • Wolfram syndrome Antibody
  • Wolfram syndrome 1 (wolframin) Antibody
  • WOLFRAMIN Antibody
  • wolframin ER transmembrane glycoprotein Antibody
    		•
    Information: Target information shown above is from the UniProt Consortium.
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