Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | ADHFE1 |
Gene Name: | ADHFE1 |
Protein Full Name: | Hydroxyacid-oxoacid transhydrogenase, mitochondria |
Alias: | ADH8; ADHFe1; Alcohol dehydrogenase 8; Alcohol dehydrogenase, iron containing, 1; Fe-containing alcohol dehydrogenase; Fe-containing alcohol dehydrogenase 1; FLJ32430 |
Mass (Da): | 50308 |
Number AA: | 467 |
UniProt ID: | Q8IWW8 |
Locus ID: | 137872 |
COSMIC ID: | ADHFE1 |
Gene location on chromosome: | 8q13.1 |
Cancer protein type: | UNCLEAR |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | UNCLEAR |
Number of cancer specimens: | 19781 |
Percent of cancer specimens with mutations: | 0.41 |
Mutations observed as inherited: | NA |
Found in amplified chromosomal regions in human cancers: | NA |
Deregulated in translocations: | NA |
Deregulated by viral insertion: | NA |
Transduced into viral genome: | NA |
Gene undergoes hypermethylation: | NA |
Normal role description: | ADHFE1 is an alcohol dehydrogenase of the hydroxyacid-oxoacid transhydrogenase subfamily. It is normally only expressed in the adult liver, subcellularly in the mitochondria. It catalyzes the formation of succinic semialdehyde via an oxidation reaction of gamma-hydroxybutyrate and may also play a role in hydrogen transport. |