Gene: ETFA
Alternate names for this Gene: EMA|GA2|MADD
Gene 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.
Gene is located in Chromosome: 15
Location in Chromosome : 15q24.2-q24.3
Description of this Gene: electron transfer flavoprotein subunit alpha
Type of Gene: protein-coding
rs1801591 in
ETFA gene and
Central Nervous System Neoplasms
PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.
PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
rs1801591 in
ETFA gene and
Glioma
PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.
PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
rs119458970 in
ETFA gene and
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
PMID 26409463 2016 Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
PMID 1430199 1992 Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
PMID 9334218 1997 Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
PMID 12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
rs1914816 in
ETFA gene and
Rheumatoid Arthritis
PMID 22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.