Table of Contents - *611083
External Links:
Genome
DNA
Protein
Gene Info
Variation
Animal Models
Cellular Pathways
| *611083 | ||||||
| ALCOHOL DEHYDROGENASE, IRON-CONTAINING, 1; ADHFE1 | ||||||
| Alternative titles; symbols | ||||||
| HYDROXYACID-OXOACID TRANSHYDROGENASE; HOT ALCOHOL DEHYDROGENASE 8; ADH8 | ||||||
| HGNC Approved Gene Symbol: ADHFE1 | ||||||
| Cytogenetic location: 8q13.1 Genomic coordinates (GRCh37): 8:67,344,717 - 67,381,043 (from NCBI) | ||||||
| TEXT | ||||||
| Description | ||||||
| The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006). | ||||||
| Cloning | ||||||
| Deng et al. (2002) cloned a novel iron-containing alcohol dehydrogenase (ADH) cDNA, designated ADHFE1, from a human fetal brain cDNA library. ADHFE1 encodes a deduced 467-amino acid protein with a predicted molecular mass of 50 kD. The protein shares 21 to 38% sequence identity with the type III ADHs of microbial organisms and 88%, 67%, and 53% identity with homologs in mouse, Drosophila, and C. elegans, respectively. Northern blot analysis detected a 2.4-kb transcript in liver only. MTC-panel screening PCR detected expression in adult liver, kidney, thymus, and spleen. | ||||||
| Gene Function | ||||||
| Kardon et al. (2006) demonstrated that overexpression of mouse Adhfe1 in human embryonic kidney cells catalyzed the oxidation of 4-hydroxybutyrate to succinate semialdehyde. Adhfe1 enzyme activity required both 4-hydroxybutyrate and alpha-ketoglutarate. | ||||||
| Gene Structure | ||||||
| Deng et al. (2002) determined that the ADHFE1 gene contains 14 exons and spans more than 36 kb. | ||||||
| Mapping | ||||||
| By genomic sequence analysis, Deng et al. (2002) mapped the ADHFE1 gene to chromosome 8q12.3-q13.1. By the same method, Kardon et al. (2006) mapped the gene to 8q13.1. | ||||||
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