TMEM43 Rabbit monoclonal antibody

Size

POA

SKU:: A21160
Additional Names:: ARVC5|ARVD5|AUNA2|AUNA3|EDMD7|LUMA|TMEM43
Application:: ELISA, WB, IHC-P
Molecular Weight:: 45kDa
Species Reactivity:: Human
Purification:: Affinity Purified
Storage Conditions:: -20[o]C Avoid freeze/thaw cycles.
Supplier:: Abclonal
Host:: Rabbit
Reactivities:: Human, Mouse, Rat
Immunogen:: Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulation:: Unmodified
Sequence:: GMFVGLMAFLLSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTE
Uniprot:: Q9BTV4
Synonyms:: ARVC5;ARVD5;EDMD7;LUMA;Protein LUMA;transmembrane protein 43
Extra Details:: 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.