SGPL1-Gen
Das SGPL1-Gen kodiert ein Enzym, welches im endoplasmatischen Retikulum am Sphingolipid-Katabolismus beteiligt ist. Mutationen sind für das autosomal rezessive nephrotische Syndrom vom Typ 14 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Saba JD et al. (1997) The BST1 gene of Saccharomyces cerevisiae is the sphingosine-1-phosphate lyase.
|
2. |
Zhou J et al. (1998) Identification of the first mammalian sphingosine phosphate lyase gene and its functional expression in yeast.
|
3. |
Schwab SR et al. (2005) Lymphocyte sequestration through S1P lyase inhibition and disruption of S1P gradients.
|
4. |
Ram N et al. (2012) A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.
|
5. |
Schreyer-Shafir N et al. (2014) Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease.
|
6. |
Lovric S et al. (2017) Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
|
7. |
Prasad R et al. (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
|
8. |
Janecke AR et al. (2017) Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
|
Update: 3. November 2022