SAR1B-Gen
Das SAR1B-Gen kodiert ein Protein, welches am intrazellulären Proteintransport vom endoplasmatiscen Retikulum in den Golgi-Apparat beteiligt ist und deshalb einen Einfluss auf die Proteinsekretion hat. Mutationen verursachen di autosomal rezessive Chylomikronen-Retentions-Krankheit.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Schekman R et al. (1996) Coat proteins and vesicle budding.
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2. |
Aguglia U et al. (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.
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3. |
Takai Y et al. (2001) Small GTP-binding proteins.
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4. |
He H et al. (2002) Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues.
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5. |
Jones B et al. (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
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6. |
Annesi G et al. (2007) SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
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7. |
Charcosset M et al. (2008) Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
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Update: 14. August 2020