Product Datasheet
TMEM43 Polyclonal Antibody
Catalog Number: 31580
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q9BTV4
NCBI Gene ID:79188
- Form of Antibody:
- Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
- Immunogen:
- Recombinant fusion protein of human TMEM43 (NP_077310.1).
- appl_detail:
- WB 1:500 - 1:2000
IHC 1:50 - 1:100
- other_names:
- TMEM43; ARVC5; ARVD5; EDMD7; LUMA; transmembrane protein 43
- Purification:
- Affinity purification
- Background:
- 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.
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