TMEM43 - transmembrane protein 43 Gene

Also Known as LUMA; ARVC5; ARVD5; AUNA3; EDMD7; EDMD7; AUNA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79188

About TMEM43

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,125,052-14,143,680 (from NCBI)

This gene has 2 transcripts (splice variants), 193 orthologues and is associated with 8 phenotypes. Ubiquitous expression in skin (RPKM 47.7), ovary (RPKM 42.5) and 25 other tissues.

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]

TMEM43 Products (8)

mRNA	Protein	Name
NM_001407274.1	NP_001394203.1	transmembrane protein 43 isoform 2
NM_001407275.1	NP_001394204.1	transmembrane protein 43 isoform 3
NM_001407276.1	NP_001394205.1	transmembrane protein 43 isoform 4
NM_001407277.1	NP_001394206.1	transmembrane protein 43 isoform 5
NM_001407278.1	NP_001394207.1	transmembrane protein 43 isoform 6
NM_001407279.1	NP_001394208.1	transmembrane protein 43 isoform 7
NM_001407280.1	NP_001394209.1	transmembrane protein 43 isoform 8
NM_024334.3	NP_077310.1	transmembrane protein 43 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	21391237	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21391237	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within nuclear membrane organization	IDA IDA: Inferred from direct assay	18230648	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM43 Protein Structure

TMEM43

0
100
200
300
400 a.a.

Protein Preferred Names	Protein Names
transmembrane protein 43

TMEM43 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TMEM43	Q9BTV4	CISD2	Homo sapiens	Q8N5K1	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	CISD2	Homo sapiens	Q8N5K1	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	SIAH1	Homo sapiens	Q8IUQ4-2	Validated Y2H	25910212
Intra	TMEM43	Q9BTV4	SIAH1	Homo sapiens	Q8IUQ4-2	Y2H Array	25910212
Intra	TMEM43	Q9BTV4	SIAH1	Homo sapiens	Q8IUQ4-2	Y2H Bait-Prey Pool	25910212
Intra	TMEM43	Q9BTV4	PCYT1B	Homo sapiens	Q9Y5K3-3	Validated Y2H	32296183
Intra	TMEM43	Q9BTV4	PCYT1B	Homo sapiens	Q9Y5K3-3	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	PCYT1B	Homo sapiens	Q9Y5K3-3	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	USP25	Homo sapiens	Q9UHP3	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	USP25	Homo sapiens	Q9UHP3	Validated Y2H	32296183
Intra	TMEM43	Q9BTV4	USP25	Homo sapiens	Q9UHP3	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	GRAMD2B	Homo sapiens	Q96HH9	Y2H Prey Pooling	26871637
Intra	TMEM43	Q9BTV4	GRAMD2B	Homo sapiens	Q96HH9	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	GRAMD2B	Homo sapiens	Q96HH9	Validated Y2H	26871637
Intra	TMEM43	Q9BTV4	GRAMD2B	Homo sapiens	Q96HH9	Y2H Array	26871637
Intra	TMEM43	Q9BTV4	GRAMD2B	Homo sapiens	Q96HH9	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	APOA5	Homo sapiens	Q6Q788	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	APOA5	Homo sapiens	Q6Q788	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	EMD	Homo sapiens	P50402	Anti Bait CoIP	21391237
Intra	TMEM43	Q9BTV4	EMD	Homo sapiens	P50402	Anti Tag CoIP	21391237
Intra	TMEM43	Q9BTV4	EMD	Homo sapiens	P50402	IF	21391237
Intra	TMEM43	Q9BTV4	SYNDIG1	Homo sapiens	Q9H7V2	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	SYNDIG1	Homo sapiens	Q9H7V2	Validated Y2H	32296183
Intra	TMEM43	Q9BTV4	SYNDIG1	Homo sapiens	Q9H7V2	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	SIAH1	Homo sapiens	Q8IUQ4	Validated Y2H	25416956
Intra	TMEM43	Q9BTV4	SIAH1	Homo sapiens	Q8IUQ4	Y2H Array	25416956
Intra	TMEM43	Q9BTV4	SIAH1	Homo sapiens	Q8IUQ4	Y2H Prey Pooling	25416956
Intra	TMEM43	Q9BTV4	ZCCHC12	Homo sapiens	Q6PEW1	Y2H Prey Pooling	32296183
Intra	TMEM43	Q9BTV4	ZCCHC12	Homo sapiens	Q6PEW1	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	FGA	Homo sapiens	P02671-2	Y2H Array	32296183
Intra	TMEM43	Q9BTV4	FGA	Homo sapiens	P02671-2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

TMEM43 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82478	Transmembrane Protein 43 Antibody (YA2223)	WB, IHC-P	Human, Rat
HY-P82478A	Transmembrane Protein 43 Antibody (YA2223)(PBS only)	WB, IHC-P	Human, Rat

Related Diseases

Diseases	Alias
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Arrhythmogenic Right Ventricular Dysplasia 5 ARVD5 Arrhythmogenic Right Ventricular Cardiomyopathy 5 Arvc5 Familial Arrhythmogenic Right Ventricular Dysplasia 5 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	EDMD7 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7 Emery-Dreifuss Muscular Dystrophy 7, Ad Emd7 Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant
Auditory Neuropathy, Autosomal Dominant 3	AUNA3 Autosomal Dominant Auditory Neuropathy 3
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Familial Isolated Arrhythmogenic Right Ventricular Dysplasia	Familial Isolated Arvc Familial Isolated Arvd Familial Isolated Arrhythmogenic Right Ventricular Cardiomyopathy Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy Familial Isolated Arrhythmogenic Ventricular Dysplasia
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	EDMD2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emd2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Hauptmann-Thannhauser Muscular Dystrophy Cardiomyopathy, Dilated, With Quadriceps Myopathy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly Lgmd1b, Formerly Muscular Dystrophy, Proximal, Type 1b, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Lgmd1b Limb-Girdle Muscular Dystrophy 1b Muscular Dystrophy, Proximal, Type 1b Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Cardiac Tuberculosis	Tuberculosis, Cardiovascular Cardiovascular Tuberculosis
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Arrhythmogenic Right Ventricular Dysplasia 12 ARVD12 Arrhythmogenic Right Ventricular Cardiomyopathy 12 Arvc12 Familial Arrhythmogenic Right Ventricular Dysplasia 12 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12
Myopathy, X-Linked, With Postural Muscle Atrophy	Emery-Dreifuss Muscular Dystrophy 6, X-Linked XMPMA X-Linked Myopathy With Postural Muscle Atrophy X-Linked Emery-Dreifuss Muscular Dystrophy 6 EDMD6 Emd6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Arrhythmogenic Right Ventricular Dysplasia 6 ARVD6 Arrhythmogenic Right Ventricular Cardiomyopathy 6 Arvc6 Familial Arrhythmogenic Right Ventricular Dysplasia 6 Arrhythmogenic Right Ventricular Dysplasia-6
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	EDMD3 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Arrhythmogenic Right Ventricular Dysplasia 4 ARVD4 Arrhythmogenic Right Ventricular Cardiomyopathy 4 Arvc4 Familial Arrhythmogenic Right Ventricular Dysplasia 4 Arrhythmogenic Right Ventricular Dysplasia-4
Naxos Disease	Mal De Naxos NXD Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities Kwwh Type I Keratoderma With Woolly Hair Type I Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Carvajal Syndrome Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair DCWHK Dilated Cardiomyopathy With Woolly Hair And Keratoderma Cardiomyopathy Dilated With Woolly Hair And Keratoderma Kwwh Type Ii Keratoderma With Woolly Hair Type Ii Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy Cardiomyopathy, Dilated With Woolly Hair And Keratoderma
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	EDMD1 Emd1 Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures X-Linked Emery-Dreifuss Muscular Dystrophy 1 Humeroperoneal Neuromuscular Disease X-Linked Emery-Dreifuss Muscular Dystrophy Scapuloperoneal Syndrome, X-Linked, Formerly Humeroperoneal Neuromuscular Disease, Formerly Scapuloperoneal Syndrome, X-Linked Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures Scapuloperoneal Syndrome X-Linked X-Edmd Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic Right Ventricular Dysplasia 10 ARVD10 Arrhythmogenic Right Ventricular Cardiomyopathy 10 Arvc10 Familial Arrhythmogenic Right Ventricular Dysplasia 10 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	EDMD4 Emery-Dreifuss Muscular Dystrophy 4 With Variable Features Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 Emd4 Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Arrhythmogenic Right Ventricular Dysplasia 8 ARVD8 Arrhythmogenic Right Ventricular Cardiomyopathy 8 Arvc8 Familial Arrhythmogenic Right Ventricular Dysplasia 8 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8
Cardiac Sarcoidosis
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	EDMD5 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 Emd5 Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Arrhythmogenic Right Ventricular Dysplasia 1 Uhl Anomaly Arrhythmogenic Right Ventricular Cardiomyopathy 1 Arvc1 ARVD1 Cardiomyopathy Right Ventricular Dilated Dysplasia, Arrhythmogenic Right Ventricular, Type 1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Arrhythmogenic Right Ventricular Dysplasia 3 ARVD3 Arrhythmogenic Right Ventricular Cardiomyopathy 3 Arvc3 Familial Arrhythmogenic Right Ventricular Dysplasia 3 Arrhythmogenic Right Ventricular Dysplasia-3
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	Arrhythmogenic Right Ventricular Dysplasia 2 ARVD2 Arrhythmogenic Right Ventricular Cardiomyopathy 2 Arvc2 Familial Arrhythmogenic Right Ventricular Dysplasia 2 Dysplasia, Arrhythmogenic Right Ventricular, Type 2
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic Palmoplantar Keratoderma NEPPK Tylosis Unna-Thost Syndrome Keratoderma, Palmoplantar, Diffuse Ppkne Keratoderma, Nonepidermolytic Palmoplantar Diffuse Nonepidermolytic Palmomplantar Keratoderma Thost-Unna Syndrome Non-Epidermolytic Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type Diffuse Palmoplantar Keratoderma, Bothnian Type Krt1-Related Diffuse Nonepidermolytic Keratoderma Krt1-Related Diffuse Neppk Keratoderma, Palmoplantar, Non-Epidermolytic Nonepidermolytic Unna-Thost Disease Non-Epidermolytic Unna-Thost Disease Keratoderma, Palmoplantar, Nonepidermolytic Hyperkeratosis
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic Right Ventricular Dysplasia 9 ARVD9 Arrhythmogenic Right Ventricular Cardiomyopathy 9 Arvc9 Familial Arrhythmogenic Right Ventricular Dysplasia 9 Dysplasia, Arrhythmogenic Right Ventricular, Type 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Arrhythmogenic Right Ventricular Dysplasia 11 ARVD11 Arrhythmogenic Right Ventricular Cardiomyopathy 11 Arvc11 Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair Familial Arrhythmogenic Right Ventricular Dysplasia 11 Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair ARVD11PK Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11
Left Bundle Branch Hemiblock	Left Bundle Branch Block Left Bundle-Branch Block
Myopathy	Muscular Diseases Myopathies
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome
Ehlers-Danlos Syndrome, Hypermobility Type	Ehlers-Danlos Syndrome, Type 3 Ehlers-Danlos Syndrome, Type Iii EDSHMB Eds Iii Benign Hypermobility Syndrome Ehlers-Danlos Syndrome Hypermobility Type Eds3 Type Iii Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 3 Es-D3
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Palmoplantar Keratosis	Palmoplantar Keratoderma Keratosis Palmaris Et Plantaris Palmo-Plantar Keratodermas Keratoderma, Palmoplantar Keratoderma Palmoplantar Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Of Palms And Soles Palmoplantar Hyperkeratosis
Charcot-Marie-Tooth Disease, Axonal, Type 2b1	Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease, Type 2b1 CMT2B1 Autosomal Recessive Axonal Cmt4c1 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease Neuronal Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 Charcot-Marie-Tooth Neuropathy, Type 2b1 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 Ar-Cmt2b1 Charcot-Marie-Tooth Disease 2b1 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 Charcot-Marie-Tooth Disease Axonal Type 2b1
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Intrinsic Cardiomyopathy
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Cardiomyopathy, Dilated, 1a	Dilated Cardiomyopathy 1a Cdcd1 CMD1A Cardiomyopathy, Familial Idiopathic Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Idiopathic Dilated Cardiomyopathy, Congestive Dilated Cardiomyopathy With Conduction Defect 1 Cardiomyopathy Dilated With Conduction Defect Type 1 Cardiomyopathy, Dilated 1a Cardiomyopathy Dilated With Conduction Defect 1 Cardiomyopathy, Dilated, Type 1a
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14724	TMEM43 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TMEM43	VGNC	VGNC:80741
Bos taurus	TMEM43	VGNC	VGNC:99679
Macaca mulatta	TMEM43	VGNC	VGNC:82711
Mus musculus	TMEM43	MGD	MGI:1921372
Canis familiaris	TMEM43	VGNC	VGNC:99673
Rattus norvegicus	TMEM43	RGD	RGD:1549711
Others	TMEM43	NCBI