Application | Comment | Organism |
---|---|---|
medicine | mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation. There is no correlation between enzyme activity and clinical presentation. HSD10 is essential for structural and functional integrity of mitochondria independently of its enzymatic activity. Impairment of this function in neural cells causes apoptotic cell death whilst the enzymatic activity of HSD10 is not required for cell survival | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D86G | 28% residual activity. Mutation causes severe disruption of mitochondrial morphology | Homo sapiens |
additional information | mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation | Homo sapiens |
Q165H | complete loss of activity, no binding of cofactor NAD+ or NADH | Homo sapiens |
R130C | 64% residual activity, mutant is unstable at room temperature and steadily loses enzyme activity. Mutation causes severe disruption of mitochondrial morphology | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Mus musculus | 5739 | - |
mitochondrion | - |
Xenopus laevis | 5739 | - |
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q99714 | bifunctional 17beta-hydroxysteroid dehydrogenase type 10/2-methyl-3-hydroxybutyryl-CoA dehydrogenase | - |
Mus musculus | - |
bifunctional 17beta-hydroxysteroid dehydrogenase type 10/2-methyl-3-hydroxybutyryl-CoA dehydrogenase | - |
Xenopus laevis | - |
bifunctional 17beta-hydroxysteroid dehydrogenase type 10/2-methyl-3-hydroxybutyryl-CoA dehydrogenase | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Mus musculus | - |
fibroblast | - |
Xenopus laevis | - |
fibroblast | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
HSD10 | - |
Mus musculus |
HSD10 | - |
Xenopus laevis |
HSD10 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | enzyme knock-down by antisense-oligonucleotides results in a 40% reduction in pyruvate turnover compared to the uninjected or control injected tissue. The morphology of mitochondria in animal cap explants is changed after HSD10 knock-down. Mitochondria show severe reduction of cristae and a generally irregular shape | Xenopus laevis |
physiological function | generation of conditional Hsd17b10 knock-out mouse lines by elimination of Hsd17b10 in endothelial cells and cells of the immune system. These mice are viable and fertile, but have defects in spleen and vasculature. The animals die rapidly around week 25. Conditional knock-out lines with elimination of the Hsd17b10 gene in noradrenergic neurons are viable and fertile but die around week 26. In the loci coerulei of HSD10 deficient mice in noradrenergic neurons, almost 30% of the mitochondria show depletion of cristae and appeared empty, more than 50% of the mitochondria are loosely packed and have swollen cristae, while normal morphology is only found in 20% | Mus musculus |