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Transmembrane Protein 43 (TMEM43)

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LUMA

Transmembrane Protein 43 (TMEM43)
CCC K480
HGNC 28472
MGI 1921372
PubMed 18313022
RGD 1549711
UniProt Q9BTV4
Wiki TMEM43
TMEM43 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. Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transmembrane Protein 43 (TMEM43) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transmembrane Protein 43 (TMEM43) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transmembrane Protein 43 (TMEM43) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transmembrane Protein 43 (TMEM43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transmembrane Protein 43 (TMEM43) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transmembrane Protein 43 (TMEM43) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transmembrane Protein 43 (TMEM43) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transmembrane Protein 43 (TMEM43) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transmembrane Protein 43 (TMEM43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transmembrane Protein 43 (TMEM43) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transmembrane Protein 43 (TMEM43) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transmembrane Protein 43 (TMEM43) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transmembrane Protein 43 (TMEM43) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transmembrane Protein 43 (TMEM43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transmembrane Protein 43 (TMEM43) ELISA Kit Customized Service Offer
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  6. "LUMA interacts with emerin and influences its distribution at the inner nuclear membrane."J. Cell Sci. 121:536-548(2008) [PubMed] [Europe PMC] [Abstract]
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  8. "TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy."Ann. Neurol. 69:1005-1013(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene."Am. J. Hum. Genet. 82:809-821(2008) [PubMed] [Europe PMC] [Abstract]