SAR1B gene
The SAR1B gene encodes a protein, GTP-binding protein SAR1b, that is involved in intracellular protein transport from endoplasmatic reticulum to the Golgi apparatus and therefore has an impact on protein secretion. Mutations cause autosomal recessive Chylomicron retention disease.
Genetests:
Related Diseases:
References:
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Schekman R et al. (1996) Coat proteins and vesicle budding.
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Aguglia U et al. (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.
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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: Aug. 14, 2020