Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SGPL1 gene encodes an enzyme,sphingosine-1-phosphate lyase 1, which at the endoplasmic reticulum is involved in sphingolipid catabolism. Mutations cause autosomal recessive autosomal recessive congenital nephrotic syndrome type 14.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Saba JD et al. (1997) The BST1 gene of Saccharomyces cerevisiae is the sphingosine-1-phosphate lyase. 
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| 2. |
Zhou J et al. (1998) Identification of the first mammalian sphingosine phosphate lyase gene and its functional expression in yeast.
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| 3. |
Schwab SR et al. (2005) Lymphocyte sequestration through S1P lyase inhibition and disruption of S1P gradients.
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| 4. |
Ram N et al. (2012) A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.
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| 5. |
Schreyer-Shafir N et al. (2014) Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease.
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| 6. |
Lovric S et al. (2017) Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
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| 7. |
Prasad R et al. (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
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| 8. |
Janecke AR et al. (2017) Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
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