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TMEM43 transmembrane protein 43 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu19231 NM_024334 Homo sapiens transmembrane protein 43 (TMEM43), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu19231C NM_024334 Homo sapiens transmembrane protein 43 (TMEM43), mRNA. Customized vector In-stock 5-7 $149.00

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Gene Symbol TMEM43
Entrez Gene ID 79188
Full Name transmembrane protein 43
Synonyms ARVC5, ARVD5, EDMD7, LUMA
General protein information
Preferred Names
transmembrane protein 43
Names
transmembrane protein 43
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p25.1

Summary 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].
Disorder

MIM: 612048

Arrhythmogenic right ventricular dysplasia, familial, 5, 604400 (3)

mRNA Protein Product Sequence Price Select
NM_024334, 201025398 NP_077310, 13236587 transmembrane protein 43 ORF Sequence $269.00
Homo sapiens (human)TMEM43NP_077310.1
Pan troglodytes (chimpanzee)TMEM43XP_001157301.1
Macaca mulatta (Rhesus monkey)TMEM43XP_001091243.1
Canis lupus familiaris (dog)TMEM43XP_541751.2
Bos taurus (cattle)TMEM43NP_001095950.1
Mus musculus (house mouse)Tmem43NP_083042.1
Rattus norvegicus (Norway rat)Tmem43NP_001007746.1
Gallus gallus (chicken)TMEM43XP_414378.1
Danio rerio (zebrafish)tmem43NP_998403.1
Drosophila melanogaster (fruit fly)CG8111NP_648162.2
Xenopus (Silurana) tropicalis (western clawed frog)tmem43XP_002938277.1
Component
IDNameEvidence
GO:0005637nuclear inner membraneIEA
GO:0005783endoplasmic reticulumIEA
GO:0005794Golgi apparatusIDA
GO:0016021integral component of membraneIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards TMEM43
UniProt Q9BTV4
Vega OTTHUMG00000129802
MIM 612048
Ensembl ENSG00000170876
HGNC 28472
HPRD 15541

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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