TAFAZZIN - tafazzin, phospholipid-lysophospholipid transacylase Gene

Also Known as EFE; TAZ; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6901

About TAFAZZIN

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,411,539-154,421,726 (from NCBI)

This gene has 38 transcripts (splice variants), 181 orthologues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 11.6), spleen (RPKM 10.8) and 25 other tissues.

Summary

This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]

TAFAZZIN Products (6)

mRNA	Protein	Name
NM_000116.5	NP_000107.1	tafazzin isoform 1
NM_001303465.2	NP_001290394.1	tafazzin isoform 5
NM_001410698.1	NP_001397627.1	tafazzin isoform 6
NM_181311.4	NP_851828.1	tafazzin isoform 2
NM_181312.4	NP_851829.1	tafazzin isoform 3
NM_181313.4	NP_851830.1	tafazzin isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 1-acylglycerophosphocholine O-acyltransferase activity	IDA IDA: Inferred from direct assay	12930833	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	17043667	GOA
involved in cardiac muscle tissue development	IMP IMP: Inferred from mutant phenotype	17043667	GOA
involved in cardiolipin biosynthetic process	IMP IMP: Inferred from mutant phenotype	11118295	GOA
involved in cardiolipin metabolic process	IDA IDA: Inferred from direct assay	19700766	GOA
involved in cardiolipin metabolic process	IMP IMP: Inferred from mutant phenotype	33096711	GOA
involved in cristae formation	IMP IMP: Inferred from mutant phenotype	17043667	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	17043667	GOA
involved in hemopoiesis	IMP IMP: Inferred from mutant phenotype	17043667	GOA
involved in mitochondrial ATP synthesis coupled electron transport	IDA IDA: Inferred from direct assay	15304507	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	16857210	GOA
involved in mitophagy	IMP IMP: Inferred from mutant phenotype	33096711	GOA
involved in muscle contraction	IMP IMP: Inferred from mutant phenotype	17043667	GOA
involved in skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	17043667	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	26908608	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	26908608	GOA
is active in mitochondrion	IDA IDA: Inferred from direct assay	38322995	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15304507	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

TAFAZZIN Protein Structure

Acyltransferase

0
100
200
292 a.a.

Protein Preferred Names	Protein Names
tafazzin	protein G4.5

Related Diseases

Diseases	Alias
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive
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
Endocardial Fibroelastosis	Endomyocardial Fibroelastosis Elastomyofibrosis EFE Efe - [Endocardial Fibroelastosis] Primary Endocardial Fibroelastosis Fibroelastosis Cordis Fetal Endocarditis Fibroelastosis Congenital Endocardial Fibroelastosis Congenital Valvular Endocarditis
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Cardiomyopathy, Dilated, 3b	Dilated Cardiomyopathy 3b CMD3B X-Linked Dilated Cardiomyopathy Xlcm Dmd-Associated Dilated Cardiomyopathy Cardiomyopathy, Dilated, X-Linked Dmd-Related Dilated Cardiomyopathy Xldc Cardiomyopathy, Dilated, X-Linked 3b Cardiomyopathy, Dilated, Type 3b
Neutropenia	Leukopenia
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
Myopathy	Muscular Diseases Myopathies
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic Aciduria Type 5 Mga5 MGCA5 Dcma Dcma Syndrome Dilated Cardiomyopathy With Ataxia 3-Methylglutaconic Aciduria Type V Mga Type V Cardiomyopathy, Dilated, With Ataxia Mga, Type V Dilated Cardiomyopathy With Ataxia Syndrome Dnajc19 Defect 3-Methylglutaconic Aciduria 5 3-Alpha-Methylglutaconic Aciduria Type 5 3-@Methylglutaconic Aciduria, Type V
Atrial Standstill 1	ATRST1 Atrial Cardiomyopathy With Heart Block Cardiomyopathy, Familial, With Conduction Disturbance Atrial Standstill, Digenic Familial Cardiomyopathy With Conduction Disturbance Standstill, Atrial, Type 1 Heart Block Cardiomyopathies Idiopathic Cardiomyopathy Idiopathic Cardiopathy Primary Myocardial Disease Primary Cardiomyopathy Myocardiopathy Myocardosis Primary Idiopathic Myocardial Disease
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
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Megdel Syndrome MEGDEL Mgca6 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome Megdhel 3-Methylglutaconic Aciduria, Type Vi Serac1 Defect 3-Methylglutaconic Aciduria Type 6 3-Mgca Type Iv 3-Mgca-4 3-Methylglutaconic Aciduria Type Vi 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome Megdhel Syndrome 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
Cyclic Neutropenia	Cyclic Hematopoiesis Cyclical Neutropenia Neutropenia Cyclic Cyclic Hematopoesis Neutropenia, Cyclic Cyclic Agranulocytosis Neutropenia, Periodic Cyclic Leucopenia Periodic Neutropenia Cyclic Haematopoiesis CH Hematopoiesis, Cyclic Neutropenia, Cyclical
Sengers Syndrome	Mitochondrial Dna Depletion Syndrome 10 Cardiomyopathy And Cataract Cataract And Cardiomyopathy MTDPS10 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 Senger Syndrome
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
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
3-Methylglutaconic Aciduria, Type Iv	3-Methylglutaconic Aciduria Type 4 Mga4 MGCA4 3-Methylglutaconic Aciduria Type Iv Mga, Type Iv Mga Type Iv Not Otherwise Specified 3-Mga-Uria Type 3 Alpha Methylglutaconic Aciduria Type Iv 3 Methylglutaconic Aciduria Type Iv
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive

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-RS14184	TAFAZZIN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TAFAZZIN	VGNC	VGNC:65967
Canis familiaris	TAFAZZIN	VGNC	VGNC:47127
Mus musculus	TAFAZZIN	MGD	MGI:109626
Macaca mulatta	TAFAZZIN	VGNC	VGNC:78102
Bos taurus	TAFAZZIN	VGNC	VGNC:35621
Rattus norvegicus	TAFAZZIN	RGD	RGD:1588532
Others	TAFAZZIN	NCBI