ETFA - electron transfer flavoprotein subunit alpha Gene

Homo sapiens

Also known as EMA; GA2; MADD

Gene ID: 2108 | Gene type: protein coding

About ETFA

Cytogenetic location: 15q24.2-q24.3 Genomic coordinates (GRCh38): 15:76,215,353-76,311,469 (from NCBI)

This gene has 38 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 95.3), heart (RPKM 73.2) and 25 other tissues.

Summary

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ETFA Products(2)

mRNA	Protein	Name
NM_000126.4	NP_000117.1	electron transfer flavoprotein subunit alpha, mitochondrial isoform a
NM_001127716.2	NP_001121188.1	electron transfer flavoprotein subunit alpha, mitochondrial isoform b

ETFA Protein Structure

ETF

ETF_alpha

0
100
200
300
333 a.a.

Protein Preferred Names

Protein Names

electron transfer flavoprotein subunit alpha, mitochondrial

alpha-ETF

Related Diseases

Diseases

Alias

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type

Glutaric Aciduria Type 2, Mild Type	Mad Deficiency, Mild Type
Madd, Mild Type

Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Glutaric Aciduria Type 2, Severe Neonatal Type	Mad Deficiency, Severe Neonatal Type
Madd, Severe Neonatal Type

Riboflavin Deficiency

Ariboflavinosis	Maternal Riboflavin Deficiency
RBFVD	Vitamin B2 Deficiency
Hyporiboflavinosis

Glutaric Aciduria Iii

Glutaryl-Coa Oxidase Deficiency	Ga Iii
Glutaric Acidemia Type 3	GA3
Glutaric Aciduria Type 3	Glutaric Aciduria 3
Glutaric Acidemia Type Iii	Glutaric Aciduria Type Iii

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Sandhoff Disease

Total Hexosaminidase Deficiency	Hexosaminidases A And B Deficiency
Sandhoff Disease, Infantile, Juvenile, And Adult Forms	Beta-Hexosaminidase-Beta-Subunit Deficiency
Gm2 Gangliosidosis, Type 2	Hexosaminidase A And B Deficiency Disease
Sandhoff-Jatzkewitz-Pilz Disease	Gm2 Gangliosidosis, Type Ii
Sandhoff Disease, Infantile Form	Sandhoff Disease, Adult Form
Sandhoff Disease, Juvenile Form	Gm2-Gangliosidosis, Type Ii
Sandhoff Jatzkewitz Disease	Type Ii Gm2 Gangliosidosis
Gm2 Gangliosidosis, 0 Variant	Gm2 Gangliosidosis 0 Variant
Hexosaminidases A And B Deficiency, Infantile Form	Infantile Gm2 Gangliosidosis 0 Variant
Adult Gm2 Gangliosidosis 0 Variant	Hexosaminidases A And B Deficiency, Adult Form
Hexosaminidases A And B Deficiency, Juvenile Form	Juvenile Gm2 Gangliosidosis 0 Variant
Gm2-Gangliosidosis 2	GM2G2
Hexosaminidase A And B Deficiency	Sd

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency	Acads Deficiency
Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency	Scadh Deficiency
Short-Chain Acyl-Coa Dehydrogenase Deficiency	Deficiency Of Butyryl-Coa Dehydrogenase
Short Chain Acyl-Coa Dehydrogenase Deficiency	ACADSD
Scadd	Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of	Acyl-Coa Dehydrogenase Short-Chain Deficiency

Glutamate Formiminotransferase Deficiency

Formiminoglutamic Aciduria	Formiminotransferase Deficiency
FIGLU-URIA	Arakawa Syndrome 1
Formiminoglutamic Acidemia	Formiminotransferase Cyclodeaminase Deficiency
Formiminotransferase Deficiency Syndrome	Ftcd Deficiency
Formiminoglutamicaciduria	Figluria

Tay-Sachs Disease

Hexosaminidase A Deficiency	TSD
Hexa Deficiency	Gm2 Gangliosidosis, Type 1
Hexosaminidase Alpha-Subunit Deficiency	Gm2-Gangliosidosis, Several Forms
Gm2-Gangliosidosis, B, B1, Ab Variant	B Variant Gm2 Gangliosidosis
Sphingolipidosis, Tay-Sachs	Gm2-Gangliosidosis, Type I
B Variant Gm2-Gangliosidosis	Hex A Pseudodeficiency
Hexa Disorders	Beta-Hexosaminidase A Deficiency
Gm2 Gangliosidosis, Type I	Gangliosidosis Gm2 , Type 1
Gm2 Gangliosidosis, B, B1 Variant	Gm2-Gangliosidosis 1
GM2G1	Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Pseudo-Ab Variant	Tay-Sachs Disease Variant B1
Gangliosidoses, Gm2

Gangliosidosis

Gangliosidoses

Gm2-Gangliosidosis, Ab Variant

Hexosaminidase Activator Deficiency	Tay-Sachs Disease, Ab Variant
Gm2 Gangliosidosis, Ab Variant	Gm2 Activator Deficiency
Tay-Sachs Disease, Variant Ab	Tay-Sachs Disease Ab Variant
Ab Variant Gm2-Gangliosidosis	Tay-Sachs Variant Ab
Ab Variant	Activator Deficiency/Gm2 Gangliosidosis
Activator-Deficient Tay-Sachs Disease	Gm2 Activator Deficiency Disease
Gm2 Gangliosidosis, Type Ab	Gm2-Gangliosidosis Ab
GM2GAB	Gm2-Gangliosidosis Ab Variant
Gangliosidosis Gm2 Ab Variant	Gm2-Gangliosidosis, Variant Ab

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset	Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular	Cpt Ii Deficiency, Hepatic
Cpt2 Deficiency, Infantile	Cpt Ii Deficiency, Infantile
Cpt Ii Deficiency	Carnitine Palmitoyltransferase 2 Deficiency
Cpt2	Carnitine Palmitoyltransferase Deficiency Type 2
Carnitine Palmitoyl Transferase 2 Deficiency	Cpt-Ii
Infantile Carnitine Palmitoyltransferase Ii Deficiency	Late-Onset Carnitine Palmitoyltransferase Ii Deficiency
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyltransferase Ii Deficiency
Cpt2 Deficiency	Cptii
Cpt2, Hepatocardiomuscular Form	Cpt2, Severe Infantile Form
Cptii, Hepatocardiomuscular Form	Cptii, Severe Infantile Form
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form	Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form	Carnitine Palmitoyltransferase 2 Deficiency, Infantile
CPT2DI	Cpt Deficiency, Hepatic, Type Ii
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Carnitine Deficiency, Systemic Primary

Carnitine Uptake Defect	Renal Carnitine Transport Defect
Systemic Primary Carnitine Deficiency	CDSP
Systemic Carnitine Deficiency	Carnitine Transporter Deficiency
Cud	Primary Carnitine Deficiency
Carnitine Uptake Deficiency	Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
Carnitine Deficiency, Primary	Systemic Primary Carnitine Deficiency Disease
Deficiency Of Plasma-Membrane Carnitine Transporter	Scd
Carnitine Transporter, Plasma-Membrane, Deficiency Of	Carnitine Transport Defect
Carnitine Plasma-Membrane Transporter Deficiency	Carnitine Transporter Defect
Spcd

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of

Mcad Deficiency	Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency
Acadm Deficiency	Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of
Medium Chain Acyl-Coa Dehydrogenase Deficiency	ACADMD
Mcadh Deficiency	Mcadd
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Acyl-Coa Dehydrogenase Medium-Chain Deficiency
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Medium Chain Acyl Dehydrogenase Deficiency

Fazio-Londe Disease

Fazio-Londe Syndrome	Riboflavin Transporter Deficiency Neuronopathy
Brown-Vialetto-Van Laere Syndrome	Progressive Bulbar Palsy Of Childhood
Bulbar Palsy, Progressive, Of Childhood	Bvvls
Pontobulbar Palsy With Deafness	Progressive Bulbar Palsy With Sensorineural Deafness
Riboflavin Transporter Deficiency	FALOND
Bulbar Palsy Progressive Of Childhood	Bulbar Palsy Of Childhood, Progressive

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency	Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Lcad Deficiency
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency	Long Chain Acyl-Coa Dehydrogenase Deficiency
ACADVLD	Acadl Deficiency
Vlcadd	Long-Chain Acyl-Coa Dehydrogenase Deficiency
Acadvl	Acyl-Coa Dehydrogenase Very Long Chain Deficiency
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency	Vlcad-C
Vlcad-H	Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency	Acyl-Coa Dehydrogenase Long-Chain Deficiency
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase	Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency	GA1
Glutaric Acidemia Type 1	Glutaric Aciduria 1
Glutaric Aciduria Type 1	Glutaric Acidemia Type I
Glutaric Aciduria, Type 1	Glutaric Aciduria I
Ga I	Glutaricaciduria, Type I
Glutaryl-Coenzyme A Dehydrogenase Deficiency	Glutaric Academia Type 1
Glutaric Aciduria Type I	Ga-1
Gcdh Deficiency	Ga 1
Glutaric Acidemia 1	Gcdhd
Glutaric Aciduria, Type I	Glutaricaciduria I
Ga-I	Glutaricaciduria, Type 1

Chronic Inducible Urticaria

Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency	Isovaleryl-Coa Dehydrogenase Deficiency
IVA	Ivd Deficiency
Acidemia, Isovaleric	Isovaleric Aciduria
Isovaleryl Coa Carboxylase Deficiency	Isovaleric Acid-Coa Dehydrogenase Deficiency

Diamond-Blackfan Anemia 5

DBA5	Rpl35a-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 5

Cholinergic Urticaria

Angiokeratoma

Angiokeratoma Of Skin	Cutaneous Angiokeratoma
Skin Angiokeratoma

Mitochondrial Complex I Deficiency, Nuclear Type 20

Acyl-Coa Dehydrogenase 9 Deficiency	Acad9 Deficiency
MC1DN20	Mitochondrial Complex I Deficiency Due To Acad9 Deficiency
Nuclear Type Mitochondrial Complex I Deficiency 20	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of
Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency	Deficiency Of Acyl-Coa Dehydrogenase Family Member 9
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Encephalopathy, Ethylmalonic

Ethylmalonic Encephalopathy	EE
Epema Syndrome	Encephalopathy, Petechiae, And Ethylmalonic Aciduria
Ethe1 Deficiency	Eme
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Skin Hemangioma

Angioma Of The Skin	Angiomatous Naevus Of Skin
Hemangioma Of Skin

Sphingolipidosis

Sphingolipidoses

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria	Mcc Deficiency
Methylcrotonyl-Coa Carboxylase Deficiency	Bmcc Deficiency
3-Mcc Deficiency	3mcc
Mccd	3mcc Deficiency
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Mcc
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency	Deficiency Of Methylcrotonoyl-Coa Carboxylase
3-Methyl Crotonyl-Coa Carboxylase Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Gm1 Gangliosidosis

Beta-Galactosidase Deficiency	Gangliosidosis Gm1
Deficiency Of Beta-Galactosidase	Beta Galactosidase 1 Deficiency
Beta-Galactosidosis	Glb 1 Deficiency
Beta-Galactosidase-1 Deficiency	Beta-Galactosidase-1 Deficiency
Glb1 Deficiency	Landing Disease
Gangliosidosis, Gm1

Progressive Bulbar Palsy

Bulbar Palsy, Progressive	Progressive Bulbar Atrophy
Bulbar Palsy	Pbp - [Progressive Bulbar Palsy]
Progressive Bulbar Paralysis	Bulbar Paralysis
Chronic Bulbar Palsy	Chronic Bulbar Paralysis
Supranuclear Bulbar Paralysis

2-Hydroxyglutaric Aciduria

2-Hga	2-Hydroxyglutaric Acidemia
2-Hydroxyglutaricaciduria	Combined D-2- And L-2-Hydroxyglutaric Aciduria

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria	D2HGA1
D-2-Hga	D-2-Hydroxyglutaric Acidemia
D2ha	D2hga
Aciduria, D-2-Hydroxyglutaric, Type 1	Combined D-2- And L-2-Hydroxyglutaric Aciduria

Mitochondrial Trifunctional Protein Deficiency

Tfp Deficiency	MTPD
Trifunctional Protein Deficiency	Trifunctional Protein Deficiency With Myopathy And Neuropathy
Tfpd	Familial Hypertrophic Cardiomyopathy
Cardiomyopathy Familial Hypertrophic	Familial Hcm
Heritable Hypertrophic Cardiomyopathy	Mtp Deficiency
Tpa Deficiency	Trifunctional Protein Deficiency, Type 2
Abetalipoproteinemia

Myopathy

Muscular Diseases

Myopathies

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

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

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04555	ETFA Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ETFA	MGD	MGI:106092
Bos taurus	ETFA	VGNC	VGNC:28618
Canis familiaris	ETFA	VGNC	VGNC:40487
Macaca mulatta	ETFA	VGNC	VGNC:72436
Rattus norvegicus	ETFA	RGD	RGD:628747
Felis catus	ETFA	VGNC	VGNC:61975