RBCC Red Blood Cell Collection

ETFB_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ETFB , FP585
Protein names and data: ETFB_HUMAN , Electron transfer flavoprotein subunit beta; Beta-ETF Lenght: 255 a.a.
Mass: 27844 Da
fasta formatted sequence
Function: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).
Disease: ( OMIM: 130410 231680 ) Glutaric aciduria 2B (GA2B) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Mitochondrion matrix.
Tissue specificity: Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain, placenta, lung, kidney and pancreas.

Genetic variants

128 - 128 D -> N (in GA2B). VAR_025804
154 - 154 T -> M (in dbSNP:rs1130426). VAR_008548 1130426
164 - 164 R -> Q (in GA2B; dbSNP:rs104894677). VAR_002369 104894677

Database cross-references

UniProt: P38117
Ensembl: ENST00000309244
Ensembl: ENST00000354232
MIM: 130410
MIM: 231680
neXtProt: NX_P38117
Antibodypedia: P38117 (may not find the protein thus also not any antibody)
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