Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Chylomicronemia
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ABCA1
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ABCG5
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APOA5
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APOC2
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APOE
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Chylomicron retention disease
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SAR1B
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GPIHBP1
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LCAT
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LIPA
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LIPC
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LMF1
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LPL
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SAR1B
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| 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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