EC Number   |
General Information |
Reference |
|---|
   1.3.1.B13 | evolution |
the two genes PPRD1 and PPRD2 are orthologous to human SRD5A3 (steroid 5alpha reductase type 3) and encode polyprenol reductases responsible for conversion of polyprenol to dolichol in Arabidopsis thaliana |
-, 746028 |
| 1.3.1.B13 | malfunction |
congenital disorder of glycosylation (CDG) caused by SRD5A3 deficiency, SRD5A3-CDG is the disorder results from deleterious mutations in SRD5A3, phenotype analysis with emphasis on adult onset features and variable eye and skin involvement, including including kyphosis, retinitis pigmentosa, and cataracts, detailed overview |
743987 |
| 1.3.1.B13 | malfunction |
mutations in the SRD5A3 gene results in mental retardation, ophthalmologic and cerebellar defects of the patients |
719256 |
| 1.3.1.B13 | malfunction |
polyprenol reductase2 deficiency is lethal in Arabidopsis thaliana due to male sterility, PPRD2 knockout plants are not viable. PPRD2 deficiency results in aberrant development of the male gametophyte and sporophyte. Impaired protein glycosylation seems to be the major factor underlying these defects although disturbances in other cellular dolichol-dependent processes might also contribute. Shortage of dolichol in PPRD2-deficient cells is partially rescued by PPRD1 overexpression or by supplementation with dolichol. Supplementation of the human diet with dolichol-enriched plant tissues can allow therapeutic interventions in glycosylation disorders |
-, 746028 |
| 1.3.1.B13 | metabolism |
the enzyme (SRD5A3) is necessary for the reduction of the alpha-isoprene unit of polyprenols to form alpha-reduced dolichols, required for synthesis of dolichol-linked monosaccharides, and the oligosaccharide precursor used for N-glycosylation. The presence of residual dolichol in cells depleted for this enzyme suggests the existence of an unexpected alternative pathway for dolichol de novo biosynthesis |
719256 |
| 1.3.1.B13 | metabolism |
the enzyme is involved in the major pathway for dolichol biosynthesis for N-glycosylation, O-mannosylation, C-mannosylation, and GPI anchor synthesis |
743987 |
| 1.3.1.B13 | more |
the catalytic 3-oxo-5alpha-steroid 4-dehydrogenase domain of PPRD is localized at the C-terminus |
-, 746028 |
| 1.3.1.B13 | more |
the catalytic 3-oxo-5alpha-steroid domain of PPRD is localized at the C-terminus. Besides His321 or His336, other residues of PPRD2 might be involved in the reduction |
-, 746028 |
| 1.3.1.B13 | physiological function |
isozyme PPRD2 is essential for plant viability |
-, 746028 |
| 1.3.1.B13 | physiological function |
isozymes PPRD1 and PPRD2 are the factors mediating the key step of the dolichol cycle in plant cells. Shortage of dolichol in PPRD2-deficient cells is partially rescued by PPRD1 overexpression |
-, 746028 |
