TMEM43, transmembrane protein 43

TMEM43, transmembrane protein 43

• 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]

• Gene Synonyms (transmembrane protein 43, ARVC5, ARVD5, EDMD7, LUMA,)
• NCBI Gene ID: 79188
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A0A024R2F9
  UNIPROT ID#>>Q9BTV4
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

transmembrane protein 43 interacts with:

• ADP ribosylation factor like GTPase 13B
  apolipoprotein A5
  CDGSH iron sulfur domain 2
  family with sequence similarity 209 member A
  G protein-coupled receptor associated sorting protein 2
  membrane magnesium transporter 1
  synapse differentiation inducing 1
  synoviolin 1
  tectonic family member 2
  transmembrane 4 L six family member 20
  transmembrane protein 41B
  transportin 1
  UBA domain containing 2
  unc-93 homolog B1, TLR signaling regulator
  zinc finger CCHC-type containing 12
  zinc finger protein 598, E3 ubiquitin ligase

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.