ETFA - electron transfer flavoprotein subunit alpha Gene

Also Known as EMA; GA2; MADD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2108

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
Molecular Function GO Annotation Evidence References Source
enables electron transfer activity IDA
IDA: Inferred from direct assay
10423253 GOA
enables flavin adenine dinucleotide binding IDA
IDA: Inferred from direct assay
9334218 GOA
enables oxidoreductase activity IDA
IDA: Inferred from direct assay
9334218 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24606901 GOA
Biological Process GO Annotation Evidence References Source
involved in amino acid catabolic process IDA
IDA: Inferred from direct assay
25416781 GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
IDA: Inferred from direct assay
25416781 GOA
involved in respiratory electron transport chain IDA
IDA: Inferred from direct assay
25416781 GOA
Cellular Component GO Annotation Evidence References Source
part of electron transfer flavoprotein complex IPI
IPI: Inferred from physical interaction
8962055 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

ETFA Protein Structure

ETF

ETF: Electron transfer flavoprotein domain (22 - 174)

ETF_alpha

ETF_alpha: Electron transfer flavoprotein FAD-binding domain (210 - 294)

  • 0
  • 100
  • 200
  • 300
  • 333 a.a.
Protein Preferred Names Protein Names

electron transfer flavoprotein subunit alpha, mitochondrial

  • alpha-ETF

ETFA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ETFA P13804 ETFB Homo sapiens P38117 33961781
Intra
ETFA P13804 ETFB Homo sapiens P38117
GMS
27499296
Cross: Cross-species interaction Intra: Intraspecies interaction

ETFA Antibodies

Cat. No. Product Name Application Reactivity
HY-P84092 ETFA Antibody (YA3789) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P84092A ETFA Antibody (YA3789)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human

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

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
Others ETFA NCBI