Transmembrane protein 43; Protein LUMA; TMEM43

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

Polyclonal

Rabbit Ig

Rabbit

This TMEM43 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 195-223 amino acids from the Central region of human TMEM43.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-TMEM43 antibody 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.

This gene belongs to the TMEM43 family. Defects in this
gene are the cause of familial arrhythmogenic right ventricular
dysplasia type 5 (ARVD5), also known as arrhythmogenic right
ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right
ventricular dysplasia is an inherited disorder, often involving
both ventricles, and is characterized by ventricular tachycardia,
heart failure, sudden cardiac death, and fibrofatty replacement of
cardiomyocytes. This gene contains a response element for PPAR
gamma (an adipogenic transcription factor), which may explain the
fibrofatty replacement of the myocardium, a characteristic
pathological finding in ARVC.

Signal Transduction

Western Blot (WB), ELISA (EIA), Immunohistochemistry (IHC)

WB~~1:1000

TMEM43 Antibody (Center) western blot analysis in MDA-MB231 cell line lysates (35ug/lane).This demonstrates the TMEM43 antibody detected the TMEM43 protein (arrow).

TMEM43 Antibody (Center) immunohistochemistry analysis in formalin fixed and paraffin embedded human esophageal carcinoma followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of TMEM43 Antibody (Center) for immunohistochemistry. Clinical relevance has not been evaluated.

44876

transmembrane protein 43

transmembrane protein 43

Transmembrane protein 43

TMM43_HUMAN

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

TMEM43: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane. Defects in TMEM43 are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5); also known as arrhythmogenic right ventricular cardiomyopathy (ARVC5). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the TMEM43 family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 3p25.1

Cellular Component: Golgi apparatus; endoplasmic reticulum lumen; integral to nuclear inner membrane

Molecular Function: protein binding; protein self-association

Disease: Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant; Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :
Barahona-Dussault, C., et al. Clin. Genet. 77(1):37-48(2010)
Hodgkinson, K., et al. Genet. Med. 11(12):859-865(2009)
Merner, N.D., et al. Am. J. Hum. Genet. 82(4):809-821(2008)
Bengtsson, L., et al. J. Cell. Sci. 121 (PT 4), 536-548 (2008) :

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